Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Absent facia... |
ORPHA:90368 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem... |
ORPHA:64745 |
Ulerythema Ophryogenesis |
|
Acne, Miscarriage, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C... |
ORPHA:3406 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Scaling skin on fingertip, Hypergranulosis, Palmop... |
ORPHA:79395 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Peeling Skin Syndrome 5 |
|
Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b... |
OMIM:607602 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Bazex Syndrome |
|
Parakeratosis, Edema, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst... |
ORPHA:166113 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Erythema, Follicular hyperkeratosis, Sp... |
OMIM:607903 |
Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Thickened skin, Erythroderma, Palmoplantar hyperke... |
ORPHA:100976 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... |
OMIM:615821 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin |
OMIM:146590 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Generalized abnormal... |
ORPHA:737 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou... |
OMIM:617526 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... |
OMIM:212360 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... |
ORPHA:158681 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ... |
ORPHA:530838 |
Darier Disease |
|
Macule, Hypermelanotic macule, Acrokeratosis, Pruritus, Plantar pits, Palmoplantar keratoderma, S... |
ORPHA:218 |
Vulvovaginal Gingival Syndrome |
|
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema |
ORPHA:83453 |
Olmsted Syndrome 2 |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratos... |
OMIM:619208 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Acrokeratosis Verruciformis |
|
Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera... |
OMIM:101900 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congeni... |
OMIM:242300 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Erythema, Palmoplantar keratoderma, Hypertrichosis |
OMIM:617524 |
Peeling Skin Syndrome 3 |
|
Erythema, White scaling skin |
OMIM:616265 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... |
ORPHA:87503 |
Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular h... |
ORPHA:69125 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis, Fragile skin |
OMIM:615028 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Palmoplantar hyp... |
OMIM:300918 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ich... |
OMIM:607936 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin, Abn... |
ORPHA:2584 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Atrophoderma Vermiculata |
|
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule |
ORPHA:79100 |
Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin |
OMIM:602723 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos... |
ORPHA:505 |
Familial Benign Chronic Pemphigus |
|
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion |
ORPHA:2841 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthy... |
OMIM:612281 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... |
ORPHA:79147 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... |
ORPHA:79503 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis |
ORPHA:464318 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor... |
OMIM:604777 |
Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Hype... |
ORPHA:317 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis |
ORPHA:199267 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
OMIM:616295 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... |
ORPHA:79151 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Dry skin, Absent pubic hair, C... |
ORPHA:2269 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato... |
OMIM:617525 |
Dowling-Degos Disease |
|
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Pruritus, Palmar pits, Digital pitt... |
ORPHA:79145 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Ectodermal dysplasia, Nail dystrop... |
OMIM:604536 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Epidermal acanthosis, Edema |
OMIM:615785 |
Ichthyosis With Confetti |
|
Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Hypoplastic nipples, Congenital nonbullous i... |
OMIM:609165 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Progressive Symmetric Erythrokeratodermia |
|
Erythema, Palmoplantar keratoderma |
ORPHA:316 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Pustule, Erythema, Nail dystrophy |
OMIM:614204 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma,... |
OMIM:113800 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Erythem... |
ORPHA:346 |
Aquagenic Palmoplantar Keratoderma |
|
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... |
ORPHA:498359 |
Erosive Pustular Dermatosis Of The Scalp |
|
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Pustule |
ORPHA:222 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hirsutism |
ORPHA:2812 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Palmop... |
OMIM:605676 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Skin vesicle |
ORPHA:254478 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi... |
ORPHA:89838 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Skin fragility with non-scarring blistering, Na... |
ORPHA:79399 |
Netherton Syndrome |
|
Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti... |
OMIM:256500 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis, Cutaneous photosensitivity |
ORPHA:1336 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Epidermal acanthosis, Sparse eyebrow, Prur... |
OMIM:607626 |
Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... |
ORPHA:90158 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Plantar hyperkeratosis, Hyperconvex nail, Thickened skin, Di... |
ORPHA:495 |
Pemphigoid Gestationis |
|
Pruritus, Skin vesicle |
ORPHA:63275 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
Wells Syndrome |
|
Pruritus, Skin vesicle, Edema |
ORPHA:901 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Fragile nails, Perioral erythema, Ichthyosis |
OMIM:248300 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Ectodermal dysplasia, Palmoplantar k... |
OMIM:224750 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, H... |
OMIM:242100 |
Dermatitis Herpetiformis |
|
Macule, Eczema, Edema, Pruritus, Erythema, Skin vesicle |
ORPHA:1656 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Annular cutaneous lesion,... |
ORPHA:555905 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrop... |
OMIM:615225 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Pruritus, Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, At... |
ORPHA:79410 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palm... |
OMIM:308800 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform e... |
OMIM:614457 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule, Skin rash |
ORPHA:90000 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Erythema, Crusting erythematous dermatitis, Palmoplan... |
ORPHA:158673 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... |
ORPHA:312 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Thickened skin, Angioedema, Erythe... |
ORPHA:79455 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Patchy alopecia, Reduced epidermal extracellular matrix protein 1... |
OMIM:247100 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,... |
ORPHA:90280 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa, Crusting erythematous dermatitis |
ORPHA:79148 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Polyhydramnios, Pruritus, Dermatographic urticaria, Generalized ichthyosis,... |
OMIM:608649 |
Superficial Epidermolytic Ichthyosis |
|
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis |
ORPHA:455 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans... |
OMIM:618527 |
Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Dry skin |
OMIM:146700 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye... |
OMIM:257980 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ... |
ORPHA:2199 |
Dowling-Degos Disease 4 |
|
Pruritus, Epidermal acanthosis, Hypergranulosis |
OMIM:615696 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ... |
OMIM:148700 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Skin ulcer, Hyperkeratosis, Onycholysis |
ORPHA:525 |
Sjögren-Larsson Syndrome |
|
Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:816 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Prolidase Deficiency |
|
Abnormal fingernail morphology, Pruritus, Crusting erythematous dermatitis, Low anterior hairline... |
ORPHA:742 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Poor wound heali... |
ORPHA:1010 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Dehydration |
OMIM:251850 |
Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos... |
OMIM:603165 |
Lamellar Ichthyosis |
|
Pruritus, Erythroderma, Dehydration, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse ... |
ORPHA:313 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Follicul... |
OMIM:612843 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Hyperkeratosis, Scaling skin, Erythroderma, Dry skin |
OMIM:609180 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Dry skin, Palmoplantar keratoderma, Nail dystrophy, Scalin... |
OMIM:618373 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin, Thrombocytopenia |
OMIM:612952 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia |
ORPHA:2574 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy |
ORPHA:89843 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Pruritus, Cutaneous photosensitivity, Erythema |
ORPHA:33314 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair |
OMIM:618625 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ... |
OMIM:613102 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Cutaneous photosensitivity, Vasculitis i... |
ORPHA:163525 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Facial edema, Pustule, Pruritus, Eosi... |
ORPHA:293173 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Alopecia, Lack of faci... |
ORPHA:90156 |
Peeling Skin Syndrome 1 |
|
Brittle hair, Pruritus, Onycholysis, Scaling skin, Nail dystrophy, Erythroderma |
OMIM:270300 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta... |
ORPHA:330058 |
Harlequin Ichthyosis |
|
Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis |
ORPHA:457 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... |
OMIM:620014 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat... |
OMIM:602400 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ich... |
OMIM:613576 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... |
ORPHA:182 |
Lupus Erythematosus Tumidus |
|
Scaling skin |
ORPHA:90283 |
Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... |
ORPHA:280779 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Broad nail, Skin ulcer, Hyperkerat... |
ORPHA:1334 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Cutaneous photosensitivity, Skin fragility with non-scarring bl... |
ORPHA:79397 |
Basan Syndrome |
|
Ectodermal dysplasia, Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy |
OMIM:129200 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Scaling skin |
ORPHA:454831 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... |
ORPHA:494 |
Pyoderma Gangrenosum |
|
Pustule, Skin ulcer, Atrophic scars, Skin vesicle, Papule |
ORPHA:48104 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
ORPHA:2200 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema |
ORPHA:90160 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmoplantar kera... |
ORPHA:659 |
Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura |
ORPHA:889 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Cutaneous photosensitivity, Ma... |
ORPHA:398124 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Papule, Polyhydramnios, Dehydration |
OMIM:616069 |
Keratosis Pilaris Atrophicans |
|
Absent eyelashes, Erythema, Sparse eyebrow |
OMIM:604093 |
Diffuse Cutaneous Mastocytosis |
|
Pruritus, Thickened skin, Darier's sign, Urticaria, Dermatographic urticaria, Scaling skin, Eryth... |
ORPHA:79456 |
Vibratory Urticaria |
|
Urticaria, Flushing, Facial erythema |
OMIM:125630 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Erythema Nodosum, Familial |
|
Erythema nodosum, Erythema |
OMIM:132990 |
Mastocytosis, Cutaneous |
|
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... |
ORPHA:90159 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... |
OMIM:144200 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis, Hypergranulosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma |
OMIM:615022 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Early cutaneous photosensitivity, Death in infancy, Erythema |
OMIM:219095 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Parakeratosis, Epidermal acanthosis, Erythema, Hyperkeratosis, Congenital ichthyosiform... |
OMIM:308050 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Folli... |
ORPHA:158668 |
Maculopapular Cutaneous Mastocytosis |
|
Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu... |
ORPHA:79457 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Pruritus, Laryngeal edema, Angioed... |
ORPHA:100057 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertrichosis |
OMIM:612379 |
Pemphigus Vulgaris |
|
Urticaria, Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... |
ORPHA:2897 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry... |
ORPHA:1028 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:615023 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebro... |
OMIM:610768 |
Cole Disease |
|
Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:615522 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Ramon Syndrome |
|
Hyperkeratosis, Telangiectasia of the skin, Generalized hirsutism |
ORPHA:3019 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Hyperkeratosis, Coarse hair, Sparse hair, Hidrotic ectodermal dysplasia |
ORPHA:1883 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule |
ORPHA:257 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis |
OMIM:609638 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia |
OMIM:616029 |
Angioma Serpiginosum |
|
Erythema, Vascular skin abnormality |
ORPHA:95429 |
Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst... |
OMIM:617337 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen... |
ORPHA:2890 |
Complex Regional Pain Syndrome |
|
Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Pedal edema, ... |
ORPHA:83452 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Bruising susceptibility, Facial erythema |
OMIM:143850 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-posit... |
ORPHA:169154 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Erythroderma... |
ORPHA:35173 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Erythema, Nail pits, Fine h... |
OMIM:308300 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Erythema |
ORPHA:36237 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Darier-White Disease |
|
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Brittle hair, Trichoschisis, Fine hair, Telangiectasia, Hyperkeratosis, Fragile... |
OMIM:601675 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Leopard Syndrome 3 |
|
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin |
OMIM:613707 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Orthokeratosis... |
OMIM:615508 |
Reticular Dysgenesis |
|
Skin ulcer, Skin rash, Dehydration |
ORPHA:33355 |
Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin |
ORPHA:542592 |
Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti... |
ORPHA:38 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Ectodermal dysplasia, Atrichia, Scaling skin, Death in childhood, Neonat... |
OMIM:308205 |
Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse... |
OMIM:601214 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... |
ORPHA:79153 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Familial Cold Urticaria |
|
Pruritus, Erythema, Dehydration |
ORPHA:47045 |
Primary Erythromelalgia |
|
Pruritus, Erythema |
ORPHA:90026 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Skin rash, Eczema, Pruritus, Skin ulcer, Skin vesicle, Papule |
ORPHA:2314 |
Erythema Of Acral Regions |
|
Erythema |
OMIM:227000 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Keratolytic Winter Erythema |
|
Erythema |
OMIM:148370 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Neutropenia, B lymphocytopen... |
OMIM:150550 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Eczema, Trichorrhexis nodosa, Xerostomia, Hyperkeratos... |
ORPHA:238468 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor... |
ORPHA:294023 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Edema, Pruritus, Erythema, Cutaneous photosensitivity |
ORPHA:79278 |
Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp |
ORPHA:530 |
Noonan Syndrome 8 |
|
Curly hair, Eczema, Polyhydramnios, Hyperkeratosis, Palmoplantar cutis laxa, Pleural effusion |
OMIM:615355 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin ulcer |
ORPHA:231 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema |
ORPHA:90157 |
Proteus Syndrome |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:176920 |
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema |
|
Erythema migrans |
OMIM:609352 |
Erythema Palmare Hereditarium |
|
Erythema |
OMIM:133000 |
Benign Chronic Pemphigus |
|
Erythema |
OMIM:169600 |
Annular Erythema |
|
Erythema |
OMIM:106500 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Oligohydramnios, Absent toenail, Absent fingernai... |
ORPHA:158687 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria |
OMIM:614468 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1806 |
Mycosis Fungoides |
|
Pruritus, Erythema, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Skin nodule, Pyoderma gangrenosum, E... |
ORPHA:3243 |
Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Death in infancy, Skin ulcer |
ORPHA:2028 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Skin rash, Cutis marmorata, Pustule, Erythema, Livedo reticularis,... |
OMIM:615934 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe... |
OMIM:137940 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail |
OMIM:181600 |
Ifap Syndrome 2 |
|
Ichthyosis follicularis, Nail dystrophy, Perioral erythema, Atrichia, Sparse hair |
OMIM:619016 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Palmoplantar keratoderm... |
OMIM:618535 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Erythema, Eczema, Edema |
OMIM:177000 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Seborrheic dermatitis, Chroni... |
OMIM:618131 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit... |
OMIM:259100 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Poor wound healing, Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Eczema, Pustule, Erythema, Xerostomia, Palmoplantar hyperkeratosis, S... |
ORPHA:2907 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess |
OMIM:147060 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Incontinentia Pigmenti |
|
Alopecia, Skin rash, Abnormal fingernail morphology, Supernumerary nipple, Telangiectasia of the ... |
ORPHA:464 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Redundant skin, Polyhydramnios, Concave nail, Abn... |
ORPHA:3071 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Recon Progeroid Syndrome |
|
Progeroid facial appearance, Hyperconvex thumb nails, Livedo reticularis, Absent lower eyelashes,... |
OMIM:620370 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer |
ORPHA:2218 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Bruising susceptibility, Follicular hyperkeratosis |
ORPHA:300179 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Skin ulcer, Ri... |
ORPHA:37 |
Netherton Syndrome |
|
Skin rash, Eczema, Dehydration, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Ery... |
ORPHA:634 |
Hennekam-Beemer Syndrome |
|
Macule, Pruritus, Subcutaneous nodule, Erythema, Skin vesicle, Papule |
ORPHA:2135 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Aplasia cutis congenita, Polyhydramnios |
OMIM:612138 |
Mpdu1-Cdg |
|
Scaling skin, Eczema, Ichthyosis |
ORPHA:79323 |
Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l... |
OMIM:145250 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Telangiectasia, Telangiectasia of the skin, Lymphedema |
ORPHA:79279 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... |
ORPHA:2309 |
Thrombocytopenia 5 |
|
Petechiae, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
Sydenham Chorea |
|
Erythema |
ORPHA:306731 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Thrombocytosis, Steril... |
OMIM:604416 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Facial erythema, Vasculitis in the skin, Malar rash |
OMIM:620321 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Onychogryposis |
OMIM:614328 |
Bullous Pemphigoid |
|
Urticaria, Erythema, Psoriasiform dermatitis, Eczema |
ORPHA:703 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Patchy alopecia, Scaling skin, Chronic oral candid... |
OMIM:606367 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ulcer, Leukope... |
ORPHA:507 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle... |
ORPHA:2500 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Skin ulcer, Pallor, Anemia |
ORPHA:848 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Low posterior hairline, Telangiectasia,... |
OMIM:604173 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair |
OMIM:615279 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Poor wound healing, Hypertrichosis, Scaling skin, Cutaneous ... |
ORPHA:101330 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Erythema |
ORPHA:79099 |
Chikungunya |
|
Macule, Maculopapular exanthema, Skin rash, Facial edema, Erythema nodosum, Pruritus, Crusting er... |
ORPHA:324625 |
Porphyria Variegata |
|
Skin vesicle, Skin erosion, Localized skin lesion, Milia |
ORPHA:79473 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... |
ORPHA:75564 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis... |
ORPHA:79501 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic h... |
OMIM:148210 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
Corneodermatoosseous Syndrome |
|
Abnormal fingernail morphology, Thickened skin, Erythema, Palmoplantar keratoderma, Absent finger... |
ORPHA:3194 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz... |
ORPHA:83617 |
Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Cutaneous photosensitivity, Telangiectasia |
OMIM:278800 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Recurrent skin infections, Erythema, Palmoplantar keratoderma, Nail dystrophy, Generali... |
ORPHA:79396 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Skin ulcer, ... |
ORPHA:229717 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Edema, Lymphedema, Abnormal eyelash morphology, Thickened skin, Abnormal hair morph... |
ORPHA:2526 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair |
ORPHA:2611 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hype... |
OMIM:275210 |
Warty Dyskeratoma |
|
Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis |
ORPHA:69745 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hemophagocytosis, Skin ulcer, Hepatosplenomegaly |
ORPHA:86884 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration |
OMIM:618958 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Telangiectasia of the skin, Seborrheic dermatitis |
ORPHA:276280 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Purpura |
ORPHA:743 |
Werner Syndrome |
|
Sparse scalp hair, Miscarriage, Prematurely aged appearance, Telangiectasia of the skin, Abnormal... |
ORPHA:902 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d... |
OMIM:615726 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Trichiasis, Hyperkeratosis, Ectodermal dysplasia, Nail dysplasia, Trichodysplasia... |
OMIM:601701 |
Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar hyperkeratosi... |
OMIM:167210 |
Rosaï-Dorfman Disease |
|
Erythema |
ORPHA:158014 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
Central Diabetes Insipidus |
|
Dehydration |
ORPHA:178029 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Cutis marmorata, Frontal upsweep of hair, Broad eyebrow |
OMIM:301220 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Skin ulcer |
ORPHA:217390 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Thickened skin, Erythema, Tela... |
ORPHA:910 |
Chime Syndrome |
|
Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair |
ORPHA:3474 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in adolescence, Dehydration, Death in childhood |
OMIM:560000 |
Pituitary Adenoma 4, Acth-Secreting |
|
Striae distensae, Edema, Poor wound healing, Facial erythema, Ecchymosis, Bruising susceptibility... |
OMIM:219090 |
Reynolds Syndrome |
|
Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Xerostomia, Skin ulcer, Ascites, Gener... |
ORPHA:779 |
Juvenile Dermatomyositis |
|
Alopecia, Skin rash, Palpebral edema, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer,... |
ORPHA:93672 |
Fixed Drug Eruption |
|
Erythema, Crusting erythematous dermatitis, Generalized abnormality of skin |
ORPHA:293812 |
Dyskeratosis Congenita |
|
Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Hypopigmented skin patches, Skin u... |
ORPHA:1775 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Dehydration, Death in childhood |
OMIM:214150 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism |
ORPHA:79431 |
Neutrophilic Dermatosis, Acute Febrile |
|
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa |
OMIM:608068 |
Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Polyarteritis Nodosa |
|
Erythema, Cutis marmorata, Skin ulcer |
ORPHA:767 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Ollier Disease |
|
Anemia, Skin ulcer |
ORPHA:296 |
Subcorneal Pustular Dermatosis |
|
Pruritus, Erythema, Pustule |
ORPHA:48377 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia |
OMIM:616576 |
Fountain Syndrome |
|
Cutis marmorata, Facial edema, Synophrys, Erythema, Thick eyebrow |
ORPHA:3219 |
Prolidase Deficiency |
|
Eczema, Crusting erythematous dermatitis, Diffuse telangiectasia, Skin ulcer, Low posterior hairl... |
OMIM:170100 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Erythema |
OMIM:610015 |
Snakebite Envenomation |
|
Ecchymosis, Angioedema, Erythema, Edema |
ORPHA:449285 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Autoimmune t... |
OMIM:614700 |
Restrictive Dermopathy |
|
Short nail, Polyhydramnios, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the ... |
ORPHA:1662 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ichthyosis, Death in infancy, Dehydration, Oligohydramnios |
OMIM:208085 |
Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Facial edema, Erythema, Facial erythema,... |
ORPHA:221016 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Redundant skin, Lymphedema, Abnormal eyelash morphology, Low pos... |
ORPHA:1340 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration |
ORPHA:79312 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Skin rash, Epidermal acanthosis, Pustule, Hyperkeratosis, Joint swelling |
OMIM:612852 |
Bacterial Toxic-Shock Syndrome |
|
Abscess, Increased circulating myelocyte count, Scaling skin, Ecchymosis, Increased circulating m... |
ORPHA:36234 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pyoderma gangrenosum, Acute lymphoblastic ... |
ORPHA:486 |
Autosomal Agammaglobulinemia |
|
Recurrent skin infections, Skin rash, Dehydration |
ORPHA:33110 |
Immunoglobulin A Vasculitis |
|
Skin rash, Edema, Pustule, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility, ... |
ORPHA:761 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology |
ORPHA:1005 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Gaucher Disease, Perinatal Lethal |
|
Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Congenital nonbullous ichthyosiform er... |
OMIM:608013 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Hyperkeratosis, Dry skin, Death in infancy |
OMIM:614576 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
Limited Cutaneous Systemic Sclerosis |
|
Skin ulcer |
ORPHA:220402 |
Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
Graft Versus Host Disease |
|
Hemophagocytosis, Scaling skin, Hepatosplenomegaly |
ORPHA:39812 |
Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Facial edema, Facial erythema, Telangiec... |
ORPHA:221008 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
Mednik Syndrome |
|
Death in infancy, Erythema, Ichthyosis, Death in childhood, Neonatal death |
OMIM:609313 |
Aicardi-Goutieres Syndrome 1 |
|
Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu... |
OMIM:609242 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
Adult-Onset Still Disease |
|
Pruritus, Joint swelling, Erythema, Skin rash |
ORPHA:829 |
Lig4 Syndrome |
|
Telangiectasia of the skin, Cutaneous photosensitivity, Erythema, Low anterior hairline |
ORPHA:99812 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Pruritus, Erythroderma, Cutaneous pho... |
ORPHA:330064 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Abnormal toenail m... |
ORPHA:2908 |
Microvillus Inclusion Disease |
|
Pruritus, Dehydration |
ORPHA:2290 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perianal erythema, Paronychia, Alopecia of scalp, Perioral erythema, Dry skin |
OMIM:201100 |
Donohue Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Nail dysplasia, Hypertrichosis |
OMIM:246200 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsweep of hair, Scaling skin, ... |
OMIM:618419 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Dry ... |
ORPHA:69087 |
Xeroderma Pigmentosum, Complementation Group F |
|
Cutaneous photosensitivity, Erythema |
OMIM:278760 |
Carnitine Deficiency, Systemic Primary |
|
Dehydration |
OMIM:212140 |
Toxic Epidermal Necrolysis |
|
Erythema, Skin ulcer, Acantholysis |
ORPHA:537 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:28378 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Eczema, Abnormal eyelash morphology, Abnormal hair mor... |
ORPHA:2273 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly |
OMIM:610644 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Pustule, Atopic dermatitis, Dehydration |
ORPHA:171876 |
Microscopic Polyangiitis |
|
Cutis marmorata, Skin rash, Erythema, Skin ulcer, Subcutaneous hemorrhage |
ORPHA:727 |
Propionic Acidemia |
|
Eczema, Dehydration |
OMIM:606054 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Lip telangiectasia, An... |
ORPHA:79280 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Chronic mucocutaneous candidiasis, Coarse hair, Nail dystrophy, Follicular hyperkeratos... |
OMIM:158310 |
Sialidosis Type 1 |
|
Hyperkeratosis, Vascular skin abnormality |
ORPHA:812 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology, Abnormal epidermal morphology |
ORPHA:398189 |
Dermatomyositis |
|
Abnormal hair quantity, Telangiectasia of the skin, Edema, Periorbital edema, Pruritus, Erythema,... |
ORPHA:221 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor |
OMIM:611804 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Death in infancy |
ORPHA:163966 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema |
OMIM:106100 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Hyperkeratosis with erythema, Coarse hair |
OMIM:118650 |
Mycetoma |
|
Recurrent bacterial skin infections, Prominent superficial veins, Cobblestone-like hyperkeratosis |
ORPHA:2583 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Behcet Syndrome |
|
Erythema nodosum, Erythema, Patchy alopecia |
OMIM:109650 |
Localized Scleroderma |
|
Thickened skin, Erythema, Patchy alopecia, Abnormal skin adnexa morphology |
ORPHA:90289 |
Leukocyte Adhesion Deficiency Type Ii |
|
Skin vesicle, Palpebral edema |
ORPHA:99843 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow, Increased nuchal translucency, Hyperkeratosis, Palmoplantar cutis lax... |
OMIM:616564 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Angioedema, Erythema, Erythroderma |
ORPHA:139402 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Nail pits, Hypoplastic nipples... |
ORPHA:978 |
Sunct Syndrome |
|
Facial edema, Palpebral edema, Flushing, Facial erythema |
ORPHA:57145 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Acrocyanosis, Urticaria, Erythema, Purpura |
ORPHA:343 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Ramon Syndrome |
|
Hyperkeratosis, Telangiectasia, Angiokeratoma, Hypertrichosis |
OMIM:266270 |
Noonan Syndrome 2 |
|
Curly hair, Polyhydramnios, Sparse eyebrow, Increased nuchal translucency, Low posterior hairline... |
OMIM:605275 |
Stevens-Johnson Syndrome |
|
Erythema, Acantholysis |
ORPHA:36426 |
Flynn-Aird Syndrome |
|
Alopecia, Skin ulcer |
ORPHA:2047 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Skin ulcer |
ORPHA:834 |
Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophic toenail |
ORPHA:1657 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Thrombocytopenia, Skin ulcer, Neutropenia, Anemia |
ORPHA:47 |
Calciphylaxis |
|
Cutis marmorata, Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Rat-Bite Fever |
|
Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Scaling skin, Morbilliform rash |
ORPHA:31205 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Ascites, Facial erythema |
ORPHA:284227 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Erythema, Skin rash, Cerebral edema, Death in childhood |
OMIM:618321 |
Immunodeficiency 23 |
|
Eczema, Erythema, Chronic mucocutaneous candidiasis, Vasculitis in the skin, Molluscum contagiosum |
OMIM:615816 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Synophrys, Facial erythema, Scaling skin, Thoracic hypertrichosis, Medial flaring ... |
OMIM:619503 |
Beta-Ketothiolase Deficiency |
|
Pallor, Edema, Dehydration |
ORPHA:134 |
Fucosidosis |
|
Acrocyanosis, Generalized hyperkeratosis, Abnormality of the nail, Vascular skin abnormality |
ORPHA:349 |
Warburg-Cinotti Syndrome |
|
Poor wound healing, Joint swelling, Erythema, Follicular hyperkeratosis |
OMIM:618175 |
Papa Syndrome |
|
Skin ulcer |
ORPHA:69126 |
Brooke-Spiegler Syndrome |
|
Skin ulcer |
ORPHA:79493 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration |
OMIM:251000 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Eczema, Polyhydramnios, Hyperkeratosis, Loose anagen hair, Long ey... |
OMIM:607721 |
Cystinosis |
|
Dehydration |
ORPHA:213 |
Eec Syndrome |
|
Slow-growing hair, Sparse eyebrow, Xerostomia, Nail pits, Fine hair, Hyperkeratosis, Coarse hair,... |
ORPHA:1896 |
Chronic Graft Versus Host Disease |
|
Erythema, Xerostomia, Intermittent generalized erythematous papular rash, Skin ulcer, Skin vesicl... |
ORPHA:99921 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Facial erythema |
OMIM:618307 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Reactive Arthritis |
|
Pustule, Hyperkeratosis, Joint swelling, Dystrophic fingernails, Abnormality of the nail |
ORPHA:29207 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Acquired Purpura Fulminans |
|
Pyoderma gangrenosum, Thrombocytopenia, Macular purpura |
ORPHA:49566 |
Cholera |
|
Palmoplantar cutis laxa, Miscarriage, Dehydration |
ORPHA:173 |
Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Prematurely aged appearance, Thickened skin, Palmoplantar hyperkerat... |
OMIM:601812 |
Cryoglobulinemic Vasculitis |
|
Splenomegaly, Petechiae, Skin ulcer, Purpura |
ORPHA:91138 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Bone Marrow Failure Syndrome 3 |
|
Eczema, Hyperkeratosis, Nail dystrophy, Small nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:617052 |
Infantile Myofibromatosis |
|
Abnormal hair morphology, Skin ulcer |
ORPHA:2591 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
Takayasu Arteritis |
|
Anemia, Skin ulcer |
ORPHA:3287 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Ecchymosis, Anemia |
ORPHA:88 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Erythema, Scaling skin, Telangiectasia |
ORPHA:420741 |
Nodular Non-Suppurative Panniculitis |
|
Erythema, Edema |
ORPHA:33577 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Nail pits, Onycholysis, Malar ... |
ORPHA:85436 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Hyperkeratosis, Acral ulcer... |
ORPHA:548 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Atopic dermatiti... |
OMIM:115150 |
Chronic Granulomatous Disease |
|
Splenomegaly, Abnormality of neutrophils, Liver abscess, Skin ulcer |
ORPHA:379 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
Secondary Short Bowel Syndrome |
|
Dehydration |
ORPHA:95427 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Skin rash, Palpebral edema, Pruritus, Pustule, Erythema, Cutaneous photosensitivity, Va... |
ORPHA:50918 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Erythema, Edema |
OMIM:619183 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Thickened skin, Hyperkeratosis, Long eyelashes, Bruising susceptibility |
ORPHA:79430 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration |
OMIM:616271 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Erythema |
OMIM:614878 |
Wolcott-Rallison Syndrome |
|
Ascites, Dehydration |
ORPHA:1667 |
Livedoid Vasculopathy |
|
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Cutis marmora... |
ORPHA:542643 |
Bloom Syndrome |
|
Malar rash, Facial erythema, Cutaneous photosensitivity, Facial telangiectasia in butterfly midfa... |
OMIM:210900 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood |
OMIM:557000 |
Familial Multiple Nevi Flammei |
|
Skin ulcer |
ORPHA:624 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Edema, Dehydration |
ORPHA:20 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Rectal abscess, Skin ulcer |
OMIM:116920 |
Infantile Systemic Hyalinosis |
|
Telangiectasia of the skin, Lymphedema, Thickened skin, Skin ulcer, Urticaria |
ORPHA:2176 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, High anterior hairline |
OMIM:615510 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita of scalp |
OMIM:619817 |
Gcgr-Related Hyperglucagonemia |
|
Necrolytic migratory erythema |
ORPHA:438274 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Sparse axillary hair, Progeroid facial appearance, Erythema nodosum, Erythema, Death in adolescen... |
OMIM:256040 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis |
OMIM:276822 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Prominent superficial veins, Prematurely aged appearance, Telan... |
ORPHA:79474 |
Focal Dermal Hypoplasia |
|
Alopecia, Erythema, Telangiectasia of the skin, Abnormality of the nail |
ORPHA:2092 |
Methylmalonic Aciduria, Cblb Type |
|
Dehydration |
OMIM:251110 |
Osteootohepatoenteric Syndrome |
|
Pruritus, Dehydration |
OMIM:619377 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Familial Tumoral Calcinosis |
|
Erythema, Skin rash |
ORPHA:53715 |
Blau Syndrome |
|
Skin rash, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swelling, Ichthyosis, Dry skin |
ORPHA:90340 |
Systemic Sclerosis |
|
Alopecia, Recurrent skin infections, Nail bed telangiectasia, Pruritus, Thickened skin, Digital u... |
ORPHA:90291 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypertonic dehydration |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypertonic dehydration |
OMIM:304800 |
Renal Hypoplasia |
|
Dehydration |
ORPHA:93101 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Pilomatrixoma |
OMIM:620189 |
Melas |
|
Erythema, Hypertrichosis |
ORPHA:550 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr... |
OMIM:614748 |
Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Follicular hyperkeratosis |
OMIM:254090 |
Cushing Disease |
|
Plethora, Sparse scalp hair, Striae distensae, Acne, Dorsocervical fat pad, Poor wound healing, R... |
ORPHA:96253 |
Sympathetic Ophthalmia |
|
Macular edema, Alopecia, Erythema, Poliosis |
ORPHA:79098 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Xer... |
OMIM:604292 |
Methylmalonic Aciduria, Cbla Type |
|
Dehydration |
OMIM:251100 |
Lysosomal Acid Lipase Deficiency |
|
Pruritus, Dehydration, Xanthelasma, Xanthomatosis, Ascites |
ORPHA:275761 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Skin rash, Periorbital edema, Erythema, Bruising susceptibility, Erysipelas |
ORPHA:32960 |
Alternating Hemiplegia Of Childhood |
|
Pallor, Dehydration |
ORPHA:2131 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
Shigellosis |
|
Dehydration, Purpura |
ORPHA:810 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:90791 |
Kawasaki Disease |
|
Abnormality of nail color, Skin rash, Edema, Jaundice, Palmoplantar erythema |
ORPHA:2331 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Xer... |
OMIM:129900 |
Catastrophic Antiphospholipid Syndrome |
|
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Skin ulcer |
ORPHA:464343 |
Familial Mediterranean Fever |
|
Skin rash, Erythema, Pedal edema, Ascites, Erysipelas |
ORPHA:342 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent skin infections, Edema, Skin erosion, Dehydration, Pyoderma, Aplasia cutis congenita, S... |
ORPHA:79404 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Skin rash, Trichiasis, Acantholysis, Xerostomia, Skin ulcer... |
ORPHA:95455 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Polyhydramnios, Bruising susceptibility, Follicular hyperkeratosis, Cutis laxa |
OMIM:614557 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Oligomeganephronia |
|
Dehydration |
ORPHA:2260 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Skin ulcer, Granuloma, Neutropenia, Lymph... |
ORPHA:228119 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Thickened skin, Acanthosis nigricans, Hyperkeratosis, Facial... |
ORPHA:508 |
Relapsing Polychondritis |
|
Alopecia, Erythema, Purpura |
ORPHA:728 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrops fetalis, Dehydration |
ORPHA:79282 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Death in infancy, Sparse eyelashes, Sparse eyebrow, Fine hair, Hyperkeratosis,... |
OMIM:210710 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Skin ulcer, Dehydration, Atypical scarring of skin, Joint swelling |
ORPHA:534 |
Vipoma |
|
Erythema, Ascites, Dehydration |
ORPHA:97282 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Splenomegaly, Leukocytosis, Skin ulcer, Hepatosplenomegaly, Leukopenia, Thrombocyto... |
OMIM:615688 |
Diffuse Cutaneous Systemic Sclerosis |
|
Skin ulcer |
ORPHA:220393 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Erythema |
OMIM:614653 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick... |
ORPHA:73223 |
Fabry Disease |
|
Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Lymphedema, Hyperkeratosi... |
ORPHA:324 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Acral ulceration |
OMIM:201300 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Poor wound healing, Acral ulceration, Nail dystrophy, Nail dysplasia |
OMIM:256800 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Poor wound healing, Excessive wrinkled skin, Follicular hyperkeratosis, Palmoplantar cutis laxa, ... |
OMIM:225400 |
Glucagonoma |
|
Skin rash, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Ascites, Subcutaneous ... |
ORPHA:97280 |
Pyruvate Carboxylase Deficiency |
|
Dehydration |
ORPHA:3008 |
Pearson Syndrome |
|
Corneal stromal edema, Cafe-au-lait spot, Hydrops fetalis, Dehydration |
ORPHA:699 |
Neuroleptic Malignant Syndrome |
|
Dehydration |
ORPHA:94093 |
Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Thickened skin, Synophrys, Low anterior hairline, Skin ulcer, Coa... |
ORPHA:955 |
Giant Cell Arteritis |
|
Alopecia, Skin ulcer |
ORPHA:397 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Lymphatic Filariasis |
|
Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema |
ORPHA:2035 |
Infantile Nephropathic Cystinosis |
|
Dehydration |
ORPHA:411629 |
Microsporidiosis |
|
Skin nodule, Dehydration |
ORPHA:2552 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polyhydramnios |
ORPHA:223 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Dehydration, Oligohydramnios |
ORPHA:96191 |
6Q Terminal Deletion Syndrome |
|
Hyperkeratosis, Low anterior hairline, Highly arched eyebrow |
ORPHA:75857 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Skin ulcer |
OMIM:608710 |
Malakoplakia |
|
Pruritus, Inflammatory abnormality of the skin, Skin rash, Skin ulcer |
ORPHA:556 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:168558 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Eczema, Hyperkeratosis, Ectodermal dysplasia, Ichthyosis, Fair hair |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Eczema, Hyperkeratosis, Ectodermal dysplasia, Ichthyosis, Fair hair |
ORPHA:363958 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:289548 |
Scorpion Envenomation |
|
Purpura, Erythema, Edema, Pulmonary edema |
ORPHA:466677 |
Distal Renal Tubular Acidosis |
|
Dehydration |
ORPHA:18 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99885 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
Juvenile Nephropathic Cystinosis |
|
Dehydration |
ORPHA:411634 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal eyelash morphology, Erythema, Abnormality of the nail |
ORPHA:2556 |
Marburg Hemorrhagic Fever |
|
Skin rash, Petechiae, Maculopapular exanthema, Dehydration |
ORPHA:99826 |
Pseudoxanthoma Elasticum |
|
Civatte bodies, Cutis laxa |
OMIM:264800 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Poor wound healing, Synophrys, Follicular hyperkeratosis, Bruising susceptibility, Fragile skin |
ORPHA:536545 |
Adenocarcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424016 |
Blau Syndrome |
|
Eczema, Erythema nodosum, Skin ulcer, Joint swelling, Cystoid macular edema |
OMIM:186580 |
Urachal Cyst |
|
Erythema |
ORPHA:488 |
Bartter Syndrome Type 4 |
|
Polyhydramnios, Dehydration |
ORPHA:89938 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Plethora, Sparse scalp hair, Striae distensae, Acne, Dorsocervical fat pad, Poor wound healing, R... |
ORPHA:99889 |
Multiple Endocrine Neoplasia Type 1 |
|
Large cafe-au-lait macules with irregular margins, Confetti-like hypopigmented macules, Dehydration |
ORPHA:652 |
Zollinger-Ellison Syndrome |
|
Jaundice, Erythema |
ORPHA:913 |
Bartter Syndrome, Type 1, Antenatal |
|
Polyhydramnios, Dehydration |
OMIM:601678 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Miscarriage, Acne, Dehydration |
ORPHA:90794 |
Multiple Endocrine Neoplasia Type 4 |
|
Erythema, Subcutaneous lipoma |
ORPHA:276152 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Frontal balding, Highly arched eyebrow, Synophrys, Long lower eyelashes, Palmoplantar erythema |
OMIM:612474 |
Cystinosis, Nephropathic |
|
Dehydration |
OMIM:219800 |
Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Dehydration |
OMIM:241200 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
Cystic Fibrosis |
|
Dehydration |
OMIM:219700 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphopenia, Skin ulcer, Leukopenia, Normochromic anemia, Decreased proportion... |
ORPHA:289390 |
Proximal Renal Tubular Acidosis |
|
Dehydration |
ORPHA:47159 |
Amoebiasis Due To Free-Living Amoebae |
|
Pustule, Unusual skin infection, Skin ulcer, Cerebral edema |
ORPHA:68 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
Cowden Syndrome |
|
Palmoplantar keratoderma, Generalized hyperkeratosis, Mucosal telangiectasiae |
ORPHA:201 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Skin ulcer, Hepatospleno... |
ORPHA:2072 |
Granulomatosis With Polyangiitis |
|
Periorbital edema, Skin rash, Skin ulcer, Purpura |
ORPHA:900 |
Baller-Gerold Syndrome |
|
Erythema |
OMIM:218600 |
Proteus Syndrome |
|
Lymphedema, Thickened skin, Abnormal subcutaneous fat tissue distribution, Vascular skin abnormal... |
ORPHA:744 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Simple Cryoglobulinemia |
|
Cold urticaria, Vascular skin abnormality, Acral ulceration, Purpura |
ORPHA:91139 |
Plague |
|
Chapped lip, Skin rash, Edema, Erythema nodosum, Skin ulcer, Dry skin |
ORPHA:707 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Pyoderma gangrenosum, Abnormality of neut... |
ORPHA:2968 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Jaundice, Ascites, Acral ulceration, Prolonged neonatal jaundice |
OMIM:256810 |
Split Cord Malformation |
|
Tufted hairs, Penetrating foot ulcers, Hydromyelia, Hypertrichosis |
ORPHA:573278 |