Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin |
OMIM:617571 |
Ulerythema Ophryogenesis |
|
Miscarriage, Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, C... |
ORPHA:3406 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin |
OMIM:146590 |
Peeling Skin Syndrome 3 |
|
Pruritus, Erythema, White scaling skin |
OMIM:616265 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Atop... |
ORPHA:530838 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Acral Self-Healing Collodion Baby |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... |
ORPHA:281127 |
Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Eczematoid dermatitis, Dry skin |
OMIM:146700 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Progressive Symmetric Erythrokeratodermia |
|
Erythema, Palmoplantar keratoderma |
ORPHA:316 |
Vibratory Urticaria |
|
Urticaria, Flushing, Facial erythema |
OMIM:125630 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Mastocytosis, Cutaneous |
|
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Pruritus, Cutaneous photosensitivity, Dry skin |
OMIM:617920 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Erythroderma |
OMIM:113800 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... |
ORPHA:87503 |
Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin |
OMIM:602723 |
Erythema Nodosum, Familial |
|
Erythema nodosum, Erythema |
OMIM:132990 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Pruritus, Cutaneous photosensitivity, Erythema |
ORPHA:33314 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin |
ORPHA:454 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis |
OMIM:620148 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Dry skin, Scaling skin |
OMIM:105250 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:613000 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Early cutaneous photosensitivity, Death in infancy, Erythema |
OMIM:219095 |
Superficial Epidermolytic Ichthyosis |
|
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin |
ORPHA:455 |
Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... |
ORPHA:280779 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Erythema, Palmoplantar keratoderma |
OMIM:617524 |
Atrophoderma Vermiculata |
|
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule |
ORPHA:79100 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... |
ORPHA:90158 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Erythema |
ORPHA:222 |
Uv-Sensitive Syndrome 3 |
|
Cutaneous photosensitivity, Dry skin, Telangiectasia |
OMIM:614640 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis, Facial erythema |
OMIM:212360 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis, Fragile skin |
OMIM:615028 |
Angioma Serpiginosum |
|
Erythema, Vascular skin abnormality |
ORPHA:95429 |
Acral Peeling Skin Syndrome |
|
Scaling skin, Erythema, Eczema, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Eryt... |
OMIM:612281 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema |
ORPHA:90160 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... |
ORPHA:64745 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis |
OMIM:607936 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Quinquaud Folliculitis Decalvans |
|
Pustule, Erythema, Recurrent skin infections |
ORPHA:346 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Bruising susceptibility, Facial erythema |
OMIM:143850 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin |
ORPHA:2584 |
Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Dry skin |
OMIM:603165 |
Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Pruritus, Laryngeal edema, Angioed... |
ORPHA:100057 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin |
ORPHA:2271 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Angioedema, Erythema, Darier's sig... |
ORPHA:79455 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosi... |
OMIM:616295 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
Keratolytic Winter Erythema |
|
Erythema |
OMIM:148370 |
Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin |
ORPHA:166113 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Scaling skin, Orthokeratosis |
OMIM:607602 |
Uv-Sensitive Syndrome 1 |
|
Cutaneous photosensitivity, Dry skin, Telangiectasia |
OMIM:600630 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... |
ORPHA:90159 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta... |
ORPHA:330058 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis |
OMIM:101850 |
Congenital Lethal Erythroderma |
|
Urticaria, Congenital exfoliative erythroderma, Dry skin, Death in infancy |
ORPHA:1954 |
Erythema Of Acral Regions |
|
Erythema |
OMIM:227000 |
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 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura |
ORPHA:889 |
Dermatoleukodystrophy |
|
Hyperkeratosis |
ORPHA:1659 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis |
OMIM:613943 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis |
ORPHA:464318 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis, Erythema, Epidermal acanthosis |
ORPHA:83453 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, Whit... |
OMIM:604777 |
Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Dermoodontodysplasia |
|
Ectodermal dysplasia, Dry skin |
OMIM:125640 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta... |
ORPHA:90156 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Huriez Syndrome |
|
Dry skin, Lack of skin elasticity, Palmoplantar keratoderma |
ORPHA:384 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Urticaria, Cutaneous photosensitivity, Dry skin |
ORPHA:1184 |
Lupus Erythematosus Tumidus |
|
Cutaneous photosensitivity, Deep dermal perivascular inflammatory infiltrate, Scaling skin |
ORPHA:90283 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Erythema |
ORPHA:36237 |
Dermatitis Herpetiformis |
|
Eczema, Edema, Pruritus, Erythema, Urticaria, Skin vesicle |
ORPHA:1656 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Perioral erythema |
OMIM:248300 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Edema, Pruritus, Erythema, Cutaneous photosensitivity |
ORPHA:79278 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa |
ORPHA:79148 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Maculopapular Cutaneous Mastocytosis |
|
Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu... |
ORPHA:79457 |
Aicardi-Goutieres Syndrome 5 |
|
Scaling skin, Dry skin, Chilblains |
OMIM:612952 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Hyperkeratosis, Scaling skin, Death in childhood, Dry skin |
OMIM:614457 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Erythema, Eczema, Edema |
OMIM:177000 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:101900 |
Erythrokeratodermia Variabilis |
|
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Cutaneous photosensitivi... |
ORPHA:317 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,... |
OMIM:605676 |
Familial Cold Urticaria |
|
Pruritus, Urticaria, Erythema, Dehydration |
ORPHA:47045 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema |
ORPHA:90157 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:146750 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin |
ORPHA:461 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Complex Regional Pain Syndrome |
|
Dry skin, Edema of the upper limbs, Erythema, Pedal edema |
ORPHA:83452 |
Aquagenic Palmoplantar Keratoderma |
|
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... |
ORPHA:498359 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scal... |
ORPHA:100976 |
Primary Erythromelalgia |
|
Pruritus, Erythema |
ORPHA:90026 |
Dowling-Degos Disease 4 |
|
Pruritus, Epidermal acanthosis |
OMIM:615696 |
Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin |
ORPHA:90368 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hone... |
ORPHA:79395 |
Mycosis Fungoides |
|
Pruritus, Erythema, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Erythroderma, Dry skin |
ORPHA:313 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... |
ORPHA:158681 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Epidermal acanthosis, Cutis laxa, Scaling skin, Dry skin, Generalized hyperkeratosis |
ORPHA:2269 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Cutaneous photosensitivity |
ORPHA:735 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Epidermal acanthosis, Edema |
OMIM:615785 |
Keratosis Pilaris Atrophicans |
|
Erythema |
OMIM:604093 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Telangiectasia, Thin ski... |
ORPHA:158673 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria |
OMIM:614468 |
Diffuse Cutaneous Mastocytosis |
|
Pruritus, Darier's sign, Urticaria, Dermatographic urticaria, Scaling skin, Erythroderma, Peau d'... |
ORPHA:79456 |
Sjögren-Larsson Syndrome |
|
Urticaria, Hyperkeratosis, Erythema, Dry skin |
ORPHA:816 |
Ichthyosis With Confetti |
|
Pruritus, Scaling skin, Palmoplantar hyperkeratosis, Erythroderma |
OMIM:609165 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Ectodermal dysplasia, Fragile skin, Scaling skin, Palmoplantar hyperkeratosis |
OMIM:604536 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Hyperkeratosis, Scaling skin, Erythroderma, Dry skin |
OMIM:609180 |
Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Dehydration |
OMIM:251850 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Erythema |
ORPHA:79099 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
Bullous Pemphigoid |
|
Urticaria, Erythema, Psoriasiform dermatitis, Eczema |
ORPHA:703 |
Peeling Skin Syndrome 1 |
|
Pruritus, Scaling skin, Erythroderma |
OMIM:270300 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin |
OMIM:308800 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin |
ORPHA:542592 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:615821 |
Spinocerebellar Ataxia Type 34 |
|
Urticaria, Dry skin |
ORPHA:1955 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Cutaneous photosensitivity, Vasculitis i... |
ORPHA:163525 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Facial edema, Pustule, Pruritus, Eosi... |
ORPHA:293173 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Pruritus, Dry skin, Eczema, Palmoplantar keratoderma |
OMIM:618535 |
Reticular Dysgenesis |
|
Skin ulcer, Skin rash, Dehydration |
ORPHA:33355 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Epidermal acanthosis, Polyhydramnios, Dehydration |
OMIM:616069 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Ectodermal dysplasia, Dry skin, Palmoplantar keratoderma |
OMIM:224750 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
Sydenham Chorea |
|
Erythema |
ORPHA:306731 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Pustule, Erythema |
OMIM:614204 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Dry skin, Scaling skin, Palmoplantar keratoderma |
OMIM:618373 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Plantar hyperkeratosis, Diffuse palmoplantar hyperkeratosis,... |
ORPHA:495 |
Xeroderma Pigmentosum Variant |
|
Cutaneous photosensitivity, Dry skin, Telangiectasia |
ORPHA:90342 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Ectodermal dysplasia, Dry skin |
OMIM:600906 |
Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Sézary Syndrome |
|
Edema, Pruritus, Palmoplantar keratoderma, Erythroderma, Dry skin |
ORPHA:3162 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Polyhydramnios, Pruritus, Dermatographic urticaria, Follicular hyperkeratos... |
OMIM:608649 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess |
OMIM:147060 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis |
OMIM:604117 |
Rosaï-Dorfman Disease |
|
Erythema |
ORPHA:158014 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Scaling skin |
ORPHA:454831 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ectodermal dysplasia, Dry skin |
OMIM:129490 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Hyperkeratosis, Erythema, Palmoplantar keratoderma |
OMIM:606545 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Redundant skin |
OMIM:301021 |
Netherton Syndrome |
|
Skin rash, Eczema, Dehydration, Urticaria, Erythroderma, Dry skin |
ORPHA:634 |
Phenylketonuria |
|
Dry skin, Eczema |
OMIM:261600 |
Pili Torti-Onychodysplasia Syndrome |
|
Ectodermal dysplasia, Dry skin, Eczema, Palmoplantar keratoderma |
ORPHA:2890 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Epidermal acanthosis, Patchy palmoplantar hyperkeratosis, Erythroderma |
OMIM:133200 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Prominent superficial veins, Pedal edema, Lymphedema |
OMIM:615907 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Facial erythema, Vasculitis in the skin, Malar rash |
OMIM:620321 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Dry skin |
OMIM:618527 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Perianal erythema, Perioral erythema, Erythroderma |
OMIM:614328 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,... |
ORPHA:90280 |
Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczema |
OMIM:618116 |
Peroxisome Biogenesis Disorder 14B |
|
Dry skin |
OMIM:614920 |
Prolidase Deficiency |
|
Pruritus, Crusting erythematous dermatitis, Erythema, Skin ulcer, Hyperkeratosis, Cutaneous photo... |
ORPHA:742 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Thyroid Dyshormonogenesis 1 |
|
Dry skin |
OMIM:274400 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Chronic mucocutaneous candidiasis... |
OMIM:618282 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar... |
ORPHA:2199 |
Fixed Drug Eruption |
|
Erythema, Crusting erythematous dermatitis, Generalized abnormality of skin |
ORPHA:293812 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Dermoodontodysplasia |
|
Ectodermal dysplasia, Dry skin |
ORPHA:1660 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema |
OMIM:106100 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Hyperkeratosis, Dry skin, Eczema, Cutis laxa |
OMIM:612379 |
Adiposis Dolorosa |
|
Recurrent skin infections, Telangiectasia of the skin, Xerostomia, Dry skin, Bruising susceptibility |
ORPHA:36397 |
Subcorneal Pustular Dermatosis |
|
Pruritus, Erythema, Pustule |
ORPHA:48377 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Dry skin |
OMIM:275100 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis |
OMIM:131850 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... |
ORPHA:294023 |
Neutrophilic Dermatosis, Acute Febrile |
|
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa |
OMIM:608068 |
Ameloonychohypohidrotic Syndrome |
|
Dry skin, Seborrheic dermatitis |
OMIM:104570 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Familial Melanoma |
|
Dry skin |
ORPHA:618 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Ascites, Facial erythema |
ORPHA:284227 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar keratoderma |
OMIM:242100 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Dry skin, Prematurely aged appearance |
ORPHA:2617 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Dry skin |
OMIM:614450 |
Trichodysplasia-Xeroderma Syndrome |
|
Dry skin |
ORPHA:3361 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Seborrheic dermatitis, Chroni... |
OMIM:618131 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Cutaneous photosensitivity |
ORPHA:312 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Dehydration, Erythroderma |
ORPHA:457 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Jaundice, Orthokeratosis, Dry skin |
OMIM:607626 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyper... |
OMIM:300918 |
Polyarteritis Nodosa |
|
Erythema, Cutis marmorata, Skin ulcer |
ORPHA:767 |
Snakebite Envenomation |
|
Ecchymosis, Angioedema, Erythema, Edema |
ORPHA:449285 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Facial erythema |
OMIM:618307 |
Leopard Syndrome 3 |
|
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis |
OMIM:613707 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Follicular h... |
OMIM:257980 |
Atelis Syndrome 1 |
|
Dry skin, Eczema |
OMIM:620184 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hyperkeratosis, Death in infancy, Inflammatory abnormality of the skin, Dry skin |
OMIM:610768 |
Recon Progeroid Syndrome |
|
Progeroid facial appearance, Livedo reticularis, Dry skin, Scaling skin, Cutaneous photosensitivity |
OMIM:620370 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Olmsted Syndrome 2 |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratos... |
OMIM:619208 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis |
OMIM:175800 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis |
ORPHA:1334 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Folliculitis, Palmoplantar keratoderma, Facial erythema |
OMIM:612843 |
Pituitary Adenoma 4, Acth-Secreting |
|
Edema, Poor wound healing, Facial erythema, Thin skin, Ecchymosis, Bruising susceptibility, Stria... |
OMIM:219090 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Pruritus, Erythroderma, Cutaneous pho... |
ORPHA:330064 |
Nodular Non-Suppurative Panniculitis |
|
Erythema, Edema |
ORPHA:33577 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu... |
OMIM:609242 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Poor wound healing, Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin |
ORPHA:1010 |
Immunoglobulin A Vasculitis |
|
Skin rash, Edema, Pustule, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility, ... |
ORPHA:761 |
Mpdu1-Cdg |
|
Scaling skin, Eczema |
ORPHA:79323 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin |
OMIM:617364 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Erythema, Edema |
OMIM:619183 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Generalized ... |
ORPHA:94059 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Erythema |
OMIM:610015 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis |
OMIM:610227 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma |
OMIM:615022 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit... |
OMIM:259100 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin |
ORPHA:1035 |
Omenn Syndrome |
|
Pruritus, Dry skin, Edema, Erythroderma |
ORPHA:39041 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma |
OMIM:615024 |
Sunct Syndrome |
|
Facial edema, Palpebral edema, Flushing, Facial erythema |
ORPHA:57145 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Dry skin |
ORPHA:3085 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Death in infancy, Hyperkeratosis, Dry skin |
OMIM:614576 |
Leopard Syndrome 2 |
|
Dry skin |
OMIM:611554 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skin rash, Cutis marmorata, Pustule, Erythema, Livedo reticularis, Telangiectasia, Pustular rash,... |
OMIM:615934 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
Agel Amyloidosis |
|
Edema, Pruritus, Xerostomia, Cutis laxa, Blepharochalasis, Dry skin, Dermatological manifestation... |
ORPHA:85448 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Dry skin |
OMIM:616943 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... |
OMIM:620014 |
Rhizomelic Chondrodysplasia Punctata |
|
Dry skin |
ORPHA:177 |
Netherton Syndrome |
|
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Urticari... |
OMIM:256500 |
Ddost-Cdg |
|
Dry skin |
ORPHA:300536 |
Jung Syndrome |
|
Dry skin |
ORPHA:2321 |
Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
Basan Syndrome |
|
Ectodermal dysplasia, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:129200 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Adult-Onset Still Disease |
|
Pruritus, Joint swelling, Erythema, Skin rash |
ORPHA:829 |
Lichen Planus Pemphigoides |
|
Pruritus, Skin vesicle, Hyperkeratosis |
ORPHA:254478 |
Pityriasis Rubra Pilaris |
|
Orthokeratosis, Subungual hyperkeratosis, Parakeratosis, Palmoplantar keratoderma |
OMIM:173200 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Dry skin, Prolonged neonatal jaundice |
ORPHA:95715 |
Hatipoglu Immunodeficiency Syndrome |
|
Eczema, Poor wound healing, Atopic dermatitis, Premature graying of hair, Dry skin, Petechiae |
OMIM:620331 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration |
OMIM:618958 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:148600 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar ke... |
OMIM:148700 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Scaling skin, Chronic oral candidiasis |
OMIM:606367 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Xeroderma Pigmentosum, Complementation Group F |
|
Cutaneous photosensitivity, Erythema |
OMIM:278760 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Skin ulcer, Palmoplantar keratoderma |
ORPHA:659 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Noonan Syndrome 5 |
|
Dry skin, Polyhydramnios |
OMIM:611553 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Scaling skin, Follicu... |
ORPHA:158668 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration |
ORPHA:103910 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Acrocyanosis, Urticaria, Erythema, Purpura |
ORPHA:343 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Dry skin, Eczema |
OMIM:620191 |
Juvenile Dermatomyositis |
|
Skin rash, Palpebral edema, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer, Cutaneous... |
ORPHA:93672 |
Acrodermatitis Enteropathica |
|
Pustule, Erythema, Skin ulcer, Dry skin, Generalized abnormality of skin |
ORPHA:37 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Poor wound healing, Scaling skin, Cutaneous photosensitivity... |
ORPHA:101330 |
Bachmann-Bupp Syndrome |
|
Dry skin, Polyhydramnios |
OMIM:619075 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Dry skin, Perianal erythema, Perioral erythema |
OMIM:201100 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis |
OMIM:613102 |
Central Diabetes Insipidus |
|
Dehydration |
ORPHA:178029 |
Cole Disease |
|
Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratode... |
OMIM:615522 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Angioedema, Erythema, Erythroderma |
ORPHA:139402 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Dehydration, Death in childhood |
OMIM:214150 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Fountain Syndrome |
|
Facial edema, Erythema, Cutis marmorata |
ORPHA:3219 |
Aicardi-Goutieres Syndrome 1 |
|
Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in adolescence, Dehydration, Death in childhood |
OMIM:560000 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Telangiectasia, Hyperkeratosis, Cutaneous photosensitivity, Erythroderma, Dry skin |
OMIM:601675 |
Mednik Syndrome |
|
Neonatal death, Death in infancy, Erythema, Death in childhood |
OMIM:609313 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Dry skin |
OMIM:268020 |
Xfe Progeroid Syndrome |
|
Prematurely aged appearance, Dry skin, Death in adolescence, Ascites, Cutaneous photosensitivity |
OMIM:610965 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Perianal erythema,... |
OMIM:308205 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Prematurely aged appearance, Dry skin, Urticaria, Cutaneous photosensitivity |
ORPHA:220295 |
Distal Duplication 6P |
|
Dry skin |
ORPHA:1745 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Dry skin, Prolonged neonatal jaundice |
ORPHA:226313 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Scaling skin, Erythroderma |
ORPHA:35173 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Erythema |
OMIM:614878 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkerat... |
ORPHA:69087 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Maculopapular exanthema, Scaling skin, Jaundice |
ORPHA:39812 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Dry skin |
OMIM:300860 |
Bacterial Toxic-Shock Syndrome |
|
Recurrent skin infections, Skin rash, Edema, Scaling skin, Ecchymosis |
ORPHA:36234 |
Hydroxykynureninuria |
|
Dry skin |
ORPHA:79155 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Dry skin, Hypohidrotic ectodermal dysplasia |
OMIM:614940 |
Gcgr-Related Hyperglucagonemia |
|
Necrolytic migratory erythema |
ORPHA:438274 |
Noonan Syndrome 13 |
|
Dry skin, Bruising susceptibility, Lymphedema |
OMIM:619087 |
Microscopic Polyangiitis |
|
Cutis marmorata, Skin rash, Erythema, Skin ulcer, Subcutaneous hemorrhage |
ORPHA:727 |
Hypohidrotic Ectodermal Dysplasia |
|
Hyperkeratosis, Dry skin, Xerostomia, Eczema |
ORPHA:238468 |
Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Dry skin |
OMIM:262190 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Ectodermal dysplasia, Dry skin, Xerostomia, Periorbital wrinkles |
OMIM:614941 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Eczema, Pustule, Erythema, Xerostomia, Skin ulcer, Palmoplantar hyper... |
ORPHA:2907 |
Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Epidermal acanthosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Tangier Disease |
|
Dry skin |
OMIM:205400 |
Squalene Synthase Deficiency |
|
Cutaneous photosensitivity, Dry skin |
OMIM:618156 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration |
ORPHA:79312 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis |
OMIM:175900 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Skin vesicle, Generalized... |
ORPHA:555905 |
Beta-Ketothiolase Deficiency |
|
Pallor, Edema, Dehydration |
ORPHA:134 |
Rat-Bite Fever |
|
Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Scaling skin, Morbilliform rash |
ORPHA:31205 |
Autosomal Agammaglobulinemia |
|
Recurrent skin infections, Skin rash, Dehydration |
ORPHA:33110 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hyperkeratosis, Epidermal acanthosis, Erythroderma |
OMIM:615023 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Erythema, Skin rash, Cerebral edema, Death in childhood |
OMIM:618321 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion, Erythroderma |
ORPHA:169154 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Facial edema, Erythema nodosum, Pruritus, Crusting erythemato... |
ORPHA:324625 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Skin ulcer, Chylothorax, Scaling skin, Pleural effusion, Dry skin, Erysipelas |
ORPHA:2526 |
Irida Syndrome |
|
Hyperkeratosis, Pallor |
ORPHA:209981 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pruritus, Erythema, Urticaria, Skin vesicle |
ORPHA:2135 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Reduced epidermal extracellular matrix protein 1 protein expression |
OMIM:247100 |
Immunodeficiency 55 |
|
Dry skin, Recurrent skin infections, Eczema |
OMIM:617827 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Bruising susceptibility, Petechiae, Thin skin, Striae distensae |
OMIM:225310 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Jaundice, Dehydration, Oligohydramnios |
OMIM:208085 |
Lig4 Syndrome |
|
Cutaneous photosensitivity, Erythema, Telangiectasia of the skin |
ORPHA:99812 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Noonan Syndrome 14 |
|
Dry skin, Bruising susceptibility, Polyhydramnios |
OMIM:619745 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
Carnitine Deficiency, Systemic Primary |
|
Dehydration |
OMIM:212140 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood |
OMIM:557000 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
Congenital Short Bowel Syndrome |
|
Dehydration |
OMIM:615237 |
Pemphigus Vulgaris |
|
Urticaria, Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
Immunodeficiency 23 |
|
Eczema, Erythema, Chronic mucocutaneous candidiasis, Vasculitis in the skin, Molluscum contagiosum |
OMIM:615816 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Epidermal acanthosis, Erythema, Hyperkeratosis, Stillbirth, Orthokeratosis |
OMIM:308050 |
Propionic Acidemia |
|
Eczema, Dehydration |
OMIM:606054 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Erythema, Scaling skin, Telangiectasia |
ORPHA:420741 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperker... |
ORPHA:79151 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Ifap Syndrome 2 |
|
Perioral erythema |
OMIM:619016 |
Aicardi-Goutieres Syndrome 9 |
|
Chilblains, Edema, Pericardial effusion, Ascites, Dry skin |
OMIM:619487 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Polyhydramnios, Epidermal hyperkeratosis, Stillbirth, Scalin... |
OMIM:275210 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Pustule, Atopic dermatitis, Dehydration |
ORPHA:171876 |
Radio-Tartaglia Syndrome |
|
Dry skin, Striae distensae |
OMIM:619312 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Dry skin, Polyhydramnios |
ORPHA:1812 |
Cholera |
|
Palmoplantar cutis laxa, Miscarriage, Dehydration |
ORPHA:173 |
Proteus Syndrome |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:176920 |
Dermatomyositis |
|
Telangiectasia of the skin, Edema, Periorbital edema, Pruritus, Erythema, Skin ulcer, Acrocyanosi... |
ORPHA:221 |
Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis, Ectodermal dysplasia, Dry skin |
OMIM:601701 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular h... |
OMIM:615225 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Dry skin |
OMIM:618797 |
Microvillus Inclusion Disease |
|
Pruritus, Dehydration |
ORPHA:2290 |
Familial Tumoral Calcinosis |
|
Erythema, Skin rash |
ORPHA:53715 |
Refsum Disease |
|
Dry skin |
ORPHA:773 |
Atopic Keratoconjunctivitis |
|
Dry skin |
ORPHA:163934 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Pallor, Edema, Dehydration |
ORPHA:20 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Erythroderma |
OMIM:242300 |
Alg11-Cdg |
|
Dry skin |
ORPHA:280071 |
Behcet Syndrome |
|
Erythema nodosum, Erythema |
OMIM:109650 |
Helix Syndrome |
|
Dry skin, Xerostomia |
OMIM:617671 |
Adult Syndrome |
|
Ectodermal dysplasia, Cutaneous photosensitivity, Dry skin, Eczema |
OMIM:103285 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
Cardiofaciocutaneous Syndrome |
|
Redundant skin, Lymphedema, Hyperkeratosis, Excessive wrinkled skin, Palmoplantar keratoderma, Dr... |
ORPHA:1340 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Dry skin, Prolonged neonatal jaundice |
ORPHA:99832 |
Corneodermatoosseous Syndrome |
|
Erythema, Palmoplantar keratoderma |
ORPHA:3194 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dry skin |
OMIM:619244 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Telangiectasia of the skin, Erythema, Telangiectasia, Hyperkeratosis... |
ORPHA:910 |
19Q13.11 Microdeletion Syndrome |
|
Dry skin |
ORPHA:217346 |
Den Hoed-De Boer-Voisin Syndrome |
|
Dry skin, Death in adolescence, Oligohydramnios |
OMIM:619229 |
Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Dry skin |
OMIM:613026 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Dry skin, Scaling skin |
OMIM:618419 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Erythema nodosum, Psoriasiform lesion |
OMIM:614700 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Erythema, Palmoplantar keratoderma, Generalized abnormality of skin, F... |
ORPHA:79396 |
Warburg-Cinotti Syndrome |
|
Poor wound healing, Erythema, Joint swelling, Thin skin, Follicular hyperkeratosis |
OMIM:618175 |
Tooth Agenesis, Selective, 4 |
|
Dry skin, Palmar hyperkeratosis |
OMIM:150400 |
Shigellosis |
|
Urticaria, Dehydration, Purpura |
ORPHA:810 |
Incontinentia Pigmenti |
|
Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor |
OMIM:308300 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Malar rash |
ORPHA:85436 |
Cystinosis |
|
Dehydration |
ORPHA:213 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration |
OMIM:251000 |
Wolcott-Rallison Syndrome |
|
Jaundice, Ascites, Dehydration |
ORPHA:1667 |
Septo-Optic Dysplasia Spectrum |
|
Dry skin |
ORPHA:3157 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Skin rash, Erythema, Skin ulcer, Hyperkeratosis |
ORPHA:464 |
9P13 Microdeletion Syndrome |
|
Dry skin |
ORPHA:324313 |
Fucosidosis |
|
Bruising susceptibility, Dry skin, Angiokeratoma, Petechiae |
OMIM:230000 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Vipoma |
|
Erythema, Dehydration, Intermittent jaundice, Ascites, Subcutaneous lipoma |
ORPHA:97282 |
Parkes Weber Syndrome |
|
Prominent superficial blood vessels, Scaling skin, Skin ulcer |
ORPHA:90307 |
Rapp-Hodgkin Syndrome |
|
Anhidrotic ectodermal dysplasia, Dry skin, Palmoplantar keratoderma |
OMIM:129400 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Dry skin, Prolonged neonatal jaundice |
ORPHA:90674 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Premature graying of hair, Dry skin |
OMIM:613990 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Skin rash, Periorbital edema, Erythema, Bruising susceptibility, Erysipelas |
ORPHA:32960 |
Alternating Hemiplegia Of Childhood |
|
Pallor, Dehydration, Flushing |
ORPHA:2131 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
Cranioectodermal Dysplasia 3 |
|
Ectodermal dysplasia, Dry skin, Cutis laxa |
OMIM:614099 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
Adult Syndrome |
|
Dry skin, Skin ulcer |
ORPHA:978 |
Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
Osteootohepatoenteric Syndrome |
|
Pruritus, Dehydration, Prolonged neonatal jaundice |
OMIM:619377 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:616029 |
Toxic Epidermal Necrolysis |
|
Erythema, Skin ulcer, Acantholysis |
ORPHA:537 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Familial Mediterranean Fever |
|
Skin rash, Erythema, Pedal edema, Ascites, Erysipelas |
ORPHA:342 |
Secondary Short Bowel Syndrome |
|
Dehydration |
ORPHA:95427 |
Koolen-De Vries Syndrome |
|
Dry skin |
ORPHA:96169 |
Restrictive Dermopathy |
|
Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Generalized hyperkeratosis, Dermal transl... |
ORPHA:1662 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration |
OMIM:616271 |
Autosomal Dominant Hypocalcemia |
|
Dry skin, Eczema |
ORPHA:428 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Palpebral edema, Pruritus, Pustule, Erythema, Cutaneous photosensitivity, Vasculitis i... |
ORPHA:50918 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Cutaneous photosen... |
ORPHA:2908 |
Koolen-De Vries Syndrome |
|
Dry skin, Eczema |
OMIM:610443 |
Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
Rothmund-Thomson Syndrome Type 2 |
|
Facial edema, Plantar hyperkeratosis, Erythema, Facial erythema |
ORPHA:221016 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata, Dehydration |
OMIM:259900 |
Stevens-Johnson Syndrome |
|
Erythema, Acantholysis |
ORPHA:36426 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Prematurely aged appearance, Eczema, Dry skin, Cutaneous pho... |
ORPHA:33364 |
Blau Syndrome |
|
Skin rash, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swelling, Dry skin |
ORPHA:90340 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Dry skin |
ORPHA:2637 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Dry skin, Eczema |
ORPHA:508542 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Dry skin |
ORPHA:261323 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Skin rash, Epidermal acanthosis, Pustule, Joint swelling, Hyperkeratosis |
OMIM:612852 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Dry skin, Progeroid facial appearance |
OMIM:614008 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dry skin |
OMIM:619306 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Fetal ascites, Erythema, Atopic dermatitis, Facial erythema,... |
OMIM:619503 |
Dubowitz Syndrome |
|
Cutaneous photosensitivity, Dry skin, Cutis marmorata, Eczema |
ORPHA:235 |
Methylmalonic Aciduria, Cblb Type |
|
Dehydration |
OMIM:251110 |
Localized Scleroderma |
|
Erythema |
ORPHA:90289 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dry skin, Eczema |
OMIM:617799 |
Chime Syndrome |
|
Hyperkeratosis, Erythema, Skin ulcer |
ORPHA:3474 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:181600 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Periorbital wrinkles, Dry skin, Hypohidrotic ectodermal dysplasia, Eczema |
OMIM:305100 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Dry skin, Oligohydramnios |
ORPHA:163956 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Epidermal acanthosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis, Palmoplantar ke... |
ORPHA:79501 |
Bloom Syndrome |
|
Cutaneous photosensitivity, Malar rash, Facial telangiectasia in butterfly midface distribution, ... |
OMIM:210900 |
Eec Syndrome |
|
Hyperkeratosis, Dry skin, Xerostomia |
ORPHA:1896 |
Urachal Cyst |
|
Erythema |
ORPHA:488 |
Focal Dermal Hypoplasia |
|
Erythema, Telangiectasia of the skin, Thin skin |
ORPHA:2092 |
Renal Hypoplasia |
|
Dehydration |
ORPHA:93101 |
Late-Onset Isolated Acth Deficiency |
|
Dry skin |
ORPHA:199299 |
Barber-Say Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency |
OMIM:209885 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Rothmund-Thomson Syndrome Type 1 |
|
Facial edema, Plantar hyperkeratosis, Telangiectasia, Facial erythema |
ORPHA:221008 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Erythema |
OMIM:614653 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Cutis marmorata, Lack ... |
OMIM:606721 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypertonic dehydration |
OMIM:125800 |
Rabson-Mendenhall Syndrome |
|
Premature graying of hair, Dry skin, Reduced subcutaneous adipose tissue |
ORPHA:769 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypertonic dehydration |
OMIM:304800 |
Naxos Disease |
|
Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Diffuse palmoplantar hyperkeratosis... |
OMIM:601214 |
Methylmalonic Aciduria, Cbla Type |
|
Dehydration |
OMIM:251100 |
Glucagonoma |
|
Skin rash, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Ascites, Subcutaneous ... |
ORPHA:97280 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Anhidrotic ectodermal dysplasia, Dry skin |
OMIM:612132 |
Hallermann-Streiff Syndrome |
|
Dry skin, Telangiectasia |
OMIM:234100 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Lip telangiectasia, An... |
ORPHA:79280 |
Sympathetic Ophthalmia |
|
Erythema, Macular edema |
ORPHA:79098 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:90791 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Dr... |
OMIM:133540 |
Scorpion Envenomation |
|
Purpura, Erythema, Edema, Pulmonary edema |
ORPHA:466677 |
Kawasaki Disease |
|
Palmoplantar erythema, Jaundice, Skin rash, Edema |
ORPHA:2331 |
Melas |
|
Erythema |
ORPHA:550 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Chilblains, Dry skin, Prolonged neonatal jaundice, Acrocyanosis |
ORPHA:51 |
Primary Sjögren Syndrome |
|
Cutis marmorata, Erythema nodosum, Xerostomia, Skin ulcer, Dry skin, Purpura |
ORPHA:289390 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Hydrops fetalis, Dehydration |
ORPHA:79282 |
Tangier Disease |
|
Dry skin |
ORPHA:31150 |
Marburg Hemorrhagic Fever |
|
Skin rash, Maculopapular exanthema, Jaundice, Dehydration, Bruising susceptibility, Petechiae |
ORPHA:99826 |
Oculocerebrorenal Syndrome Of Lowe |
|
Joint swelling, Skin ulcer, Dehydration, Death in infancy |
ORPHA:534 |
Lysosomal Acid Lipase Deficiency |
|
Pruritus, Jaundice, Ascites, Dehydration |
ORPHA:275761 |
Menkes Disease |
|
Spontaneous hematomas, Dry skin, Prolonged neonatal jaundice |
ORPHA:565 |
Ablepharon Macrostomia Syndrome |
|
Excessive wrinkled skin, Dry skin, Redundant skin |
ORPHA:920 |
Oligomeganephronia |
|
Dehydration |
ORPHA:2260 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Hyperkeratosis, Prolonged neonatal jaundice, Stillbirth, Death in childhood, Dr... |
OMIM:210710 |
Chronic Graft Versus Host Disease |
|
Poor wound healing, Erythema, Xerostomia, Skin ulcer, Skin vesicle, Pleural effusion, Ascites |
ORPHA:99921 |
Chand Syndrome |
|
Dry skin |
ORPHA:1401 |
Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Dry skin |
ORPHA:69085 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Dr... |
OMIM:216400 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Plague |
|
Chapped lip, Skin rash, Edema, Erythema nodosum, Skin ulcer, Dry skin |
ORPHA:707 |
Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
Woodhouse-Sakati Syndrome |
|
Scaling skin |
ORPHA:3464 |
Acute Adrenal Insufficiency |
|
Dry skin |
ORPHA:95409 |
Scalp-Ear-Nipple Syndrome |
|
Cutaneous photosensitivity, Dry skin, Palpebral edema |
OMIM:181270 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Dry skin, Palmoplantar hyperkeratosis |
OMIM:280000 |
Darier-White Disease |
|
Pruritus, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
Noonan Syndrome 1 |
|
Dry skin, Chylothorax, Bruising susceptibility, Lymphedema |
OMIM:163950 |
Hajdu-Cheney Syndrome |
|
Dry skin, Skin ulcer |
ORPHA:955 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Progeroid facial appearance, Erythema nodosum, Erythema, Death in adolescence, Premature graying ... |
OMIM:256040 |
Pyruvate Carboxylase Deficiency |
|
Dehydration |
ORPHA:3008 |
Pearson Syndrome |
|
Corneal stromal edema, Cutaneous photosensitivity, Hydrops fetalis, Dehydration |
ORPHA:699 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Dry skin |
OMIM:218700 |
Neuroleptic Malignant Syndrome |
|
Dehydration |
ORPHA:94093 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent skin infections, Edema, Dehydration, Pyoderma, Fragile skin |
ORPHA:79404 |
Syndromic Diarrhea |
|
Dry skin |
ORPHA:84064 |
Zollinger-Ellison Syndrome |
|
Jaundice, Erythema |
ORPHA:913 |
Bartsocas-Papas Syndrome 1 |
|
Dry skin |
OMIM:263650 |
Relapsing Polychondritis |
|
Erythema, Purpura |
ORPHA:728 |
Infantile Nephropathic Cystinosis |
|
Dehydration |
ORPHA:411629 |
Alzahrani-Kuwahara Syndrome |
|
Dry skin, Eczema |
OMIM:619268 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Dehydration, Oligohydramnios |
ORPHA:96191 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Urticaria, Hyperkeratosis, Erythema, Eczema |
ORPHA:2273 |
Orofaciodigital Syndrome Type 1 |
|
Dry skin |
ORPHA:2750 |
Multiple Endocrine Neoplasia Type 4 |
|
Erythema, Subcutaneous lipoma |
ORPHA:276152 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:168558 |
Ablepharon-Macrostomia Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin |
OMIM:200110 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polyhydramnios |
ORPHA:223 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:289548 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
Addison Disease |
|
Dry skin |
ORPHA:85138 |
Distal Renal Tubular Acidosis |
|
Dehydration |
ORPHA:18 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99885 |
Pseudoxanthoma Elasticum |
|
Civatte bodies, Cutis laxa |
OMIM:264800 |
Exercise-Induced Malignant Hyperthermia |
|
Dry skin, Flushing |
ORPHA:466650 |
Juvenile Nephropathic Cystinosis |
|
Dehydration |
ORPHA:411634 |
Microsporidiosis |
|
Dehydration |
ORPHA:2552 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent scalp veins, Prematurely aged appearance, Prematur... |
OMIM:264090 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Erythema, Fragile skin |
OMIM:614748 |
Bartter Syndrome Type 4 |
|
Polyhydramnios, Dehydration |
ORPHA:89938 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Erythema |
ORPHA:2556 |
Bartter Syndrome, Type 1, Antenatal |
|
Polyhydramnios, Dehydration |
OMIM:601678 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Miscarriage, Acne, Dehydration |
ORPHA:90794 |
Cystinosis, Nephropathic |
|
Dehydration |
OMIM:219800 |
Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Dehydration |
OMIM:241200 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
Cystic Fibrosis |
|
Dehydration |
OMIM:219700 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Redundant skin in infancy, Dry skin, Cutis laxa |
OMIM:150230 |
Proximal Renal Tubular Acidosis |
|
Dehydration |
ORPHA:47159 |
Multiple Endocrine Neoplasia Type 1 |
|
Dehydration |
ORPHA:652 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Dry skin, Bruising susceptibility |
ORPHA:642 |
Baller-Gerold Syndrome |
|
Erythema |
OMIM:218600 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Palmoplantar erythema |
OMIM:612474 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz... |
ORPHA:83617 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Dry skin |
ORPHA:99646 |
Congenital Ichthyosiform Erythroderma |
|
Pruritus, Palmoplantar keratoderma, Erythroderma |
ORPHA:79394 |
Self-Improving Collodion Baby |
|
|
ORPHA:281122 |