Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Pili canaliculi |
OMIM:617252 |
Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pili Bifurcati |
|
Abnormality of hair texture, Abnormal hair morphology |
ORPHA:720 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:616760 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Generalized abnormality of skin, Palmoplantar hyperkeratosis, Annular cutaneous lesion, Skin plaq... |
ORPHA:737 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmoplantar erythema, Palmar pruritus... |
ORPHA:64745 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin, Cutaneous photosensitivity, Hyperkeratosis, Porokeratosis, Pruritus |
ORPHA:735 |
Ulerythema Ophryogenesis |
|
Miscarriage, Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Erythemato... |
ORPHA:3406 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections, Papule |
OMIM:244850 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
Darier Disease |
|
Macule, Hypermelanotic macule, Acrokeratosis, Subungual hyperkeratotic fragments, Palmoplantar ke... |
ORPHA:218 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis, Milia |
OMIM:131800 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Cutaneous photosensitivity, Hyperkeratosis, Papule |
ORPHA:1336 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Hyperkeratosis, Scaling skin, Pruritus, Orthokeratotic hyperkeratosis |
OMIM:617571 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hyperkeratosis, Erythema, Hypergranulosis |
OMIM:617525 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Erythema, Papule, Pruritus, Skin ulcer |
ORPHA:2337 |
Progressive Symmetric Erythrokeratodermia |
|
Palmoplantar keratoderma, Erythema, Skin plaque |
ORPHA:316 |
Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis |
|
Congenital bullous ichthyosiform erythroderma, Ichthyosis, Erythema, Palmoplantar hyperkeratosis |
OMIM:607602 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis, Verrucous papule, Skin nodule |
ORPHA:139414 |
Familial Benign Chronic Pemphigus |
|
Skin erosion, Erythema, Acantholysis, Hyperkeratosis, Skin vesicle |
ORPHA:2841 |
Atrophoderma Vermiculata |
|
Skin pit, Erythema, Follicular hyperkeratosis, Hypoplastic pilosebaceous units, Periauricular ski... |
ORPHA:79100 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Skin vesicle, Skin fragility with non-scarring blistering, Parakeratosis, Erythema migrans |
ORPHA:158681 |
Acquired Ichthyosis |
|
Recurrent skin infections, Erythema, Dry skin, Papule, Hyperkeratosis, Ichthyosis, Pruritus, Palm... |
ORPHA:454 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Skin erosion, Localized skin lesion, Fragile skin, Keloids, Milia, Atypical scarring of skin, Ery... |
ORPHA:79410 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Pruritus |
OMIM:146750 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Onychomycosis, Diffuse palmoplantar hyperkeratosis, Decreased movement range in interphalangeal j... |
ORPHA:530838 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Erythema, Ichthyosis, Superficial dermal perivascular infla... |
ORPHA:87503 |
Pemphigus Foliaceus |
|
Skin erosion, Pustule, Erythema, Serpiginous cutaneous lesion, Annular cutaneous lesion, Acanthol... |
ORPHA:79481 |
Keratosis, Focal Palmoplantar And Gingival |
|
Subungual hyperkeratosis, Circumungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Dowling-Degos Disease |
|
Hypermelanotic macule, Epidermoid cyst, Generalized abnormality of skin, Palmar pits, Hypopigment... |
ORPHA:79145 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis, Pruritus |
ORPHA:254478 |
Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Palmar pruritus, White papule, Skin plaque, Palmoplantar keratoderma, Excessiv... |
ORPHA:498359 |
Witkop Syndrome |
|
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail |
OMIM:189500 |
Woolly Hair, Autosomal Dominant |
|
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology |
OMIM:194300 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis |
OMIM:615327 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Subcutaneous nodule |
ORPHA:2297 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Fragile skin |
OMIM:615028 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Palmar hyperkeratosis, Plantar hyperkeratosis, Papule, Hyperkeratosis, Mil... |
ORPHA:79399 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Palmoplantar keratoderma, Erythema |
OMIM:617524 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Sclerodactyly, Dry skin, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis |
OMIM:212360 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis, Papule |
ORPHA:315 |
Iga Pemphigus |
|
Skin erosion, Pustule, Generalized abnormality of skin, Annular cutaneous lesion, Acantholysis, S... |
ORPHA:555905 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:270220 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Cole Disease |
|
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis |
OMIM:615522 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Elastosis Perforans Serpiginosa |
|
Cutis laxa, Skin-colored papule, Serpiginous cutaneous lesion, Annular cutaneous lesion, Erythema... |
ORPHA:79148 |
Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Hyperkeratosis, Hypermelanotic macule, Follicular hyperkeratosis |
ORPHA:69125 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Erythema, Dry skin, Hyperkeratosis, Skin plaque, Pruritus, Skin ulcer, Hypopig... |
ORPHA:2584 |
Verrucous Hemangioma |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin, Skin plaque |
ORPHA:464318 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Erythema, Ichthyosis, Hyperkeratosis, Hypergranulosis |
OMIM:613943 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Aplasia cutis congenita on trunk or limbs, Skin erosion, Palmoplantar hyperkeratosis, Hyperkerato... |
ORPHA:89838 |
Hypotrichosis 6 |
|
Erythema, Pruritus, Follicular hyperkeratosis |
OMIM:607903 |
Palmoplantar Keratoderma, Nagashima Type |
|
Palmoplantar hyperhidrosis, Orthokeratotic hyperkeratosis, Hypergranulosis, Epidermal acanthosis |
OMIM:615598 |
Superficial Epidermolytic Ichthyosis |
|
Erythema, Acantholysis, Ichthyosis, Thin skin, Palmoplantar keratoderma |
ORPHA:455 |
Mal De Meleda |
|
Perioral erythema, Ichthyosis, Congenital symmetrical palmoplantar keratosis |
OMIM:248300 |
Chand Syndrome |
|
Nail dysplasia, Curly hair |
OMIM:214350 |
Angioma Serpiginosum, X-Linked |
|
Fine hair, Sparse hair, Nail dystrophy |
OMIM:300652 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Erythema, Skin erosion, Parakeratosis |
ORPHA:83453 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... |
ORPHA:3361 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections |
ORPHA:79503 |
Monilethrix |
|
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy |
OMIM:158000 |
Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Erythema, Papule, Cutaneous photosensitivity, Skin plaque, Pruritus |
ORPHA:33314 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin, Palmoplantar kera... |
OMIM:607936 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Cutaneous photosensitivity, Hyperkeratosis, Ichthyosis, Skin ulcer, Palmoplantar keratoderma, Ery... |
ORPHA:312 |
Erythrokeratodermia Variabilis |
|
Macule, Hypermelanotic macule, Skin rash, Erythema, Dry skin, Patchy palmoplantar hyperkeratosis,... |
ORPHA:317 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Parakerat... |
ORPHA:79395 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Flushing, Dermatographic urticaria, Hypermelanotic macule, Macule, Sk... |
ORPHA:79455 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythroderma, Palmoplantar kera... |
OMIM:615024 |
Chilblain Lupus |
|
Discoid lupus rash, Pruritis on hand, Inflammatory abnormality of the skin, Skin rash, Cutis marm... |
ORPHA:90280 |
Epidermolytic Hyperkeratosis |
|
Epidermal acanthosis, Scaling skin, Congenital bullous ichthyosiform erythroderma, Palmoplantar h... |
OMIM:113800 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Subcutaneous nodule, Papule, Hyperkeratosis, Milia, Skin plaque, Pruritus, Atrophic scars, Dermal... |
ORPHA:89843 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Erythematous pap... |
ORPHA:79147 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair |
OMIM:234030 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Pruritus |
OMIM:131850 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Fragile skin, Palmoplantar hyperkeratosis, Cutaneous photosensitivity, Milia, Thin skin... |
ORPHA:158673 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Erythematous plaque, Superficial dermal perivascular inflammatory infiltrate, Parakerat... |
OMIM:618531 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Urticaria, Acantholysis, Recurrent cutaneous abscess formation |
ORPHA:704 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Acral Peeling Skin Syndrome |
|
Macule, Skin erosion, Eczema, Erythema, Excessive wrinkling of palmar skin, Papule, Ichthyosis, S... |
ORPHA:263534 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Dry skin,... |
OMIM:612281 |
Hypotrichosis 12 |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... |
OMIM:615885 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... |
OMIM:602032 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Erythema, Hyperkeratosis, Ichthyosis, Pruritus, Palmoplantar keratoderma, Parakeratosis |
OMIM:615821 |
Pili Torti |
|
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... |
ORPHA:2889 |
Sabinas Brittle Hair Syndrome |
|
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy |
OMIM:211390 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Pili torti, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel... |
ORPHA:2891 |
Bathing Suit Ichthyosis |
|
Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratos... |
ORPHA:100976 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Palmar hyperkeratosis, Recurrent cutaneous fungal infections... |
ORPHA:495 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Scarring alopecia of scalp, Erythema, Skin erosion |
ORPHA:222 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin rash, Vasculitis in the skin, Skin nodule |
ORPHA:90000 |
Pili Torti, Early-Onset |
|
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... |
OMIM:261900 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Follicular hyperkeratosis |
OMIM:613102 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis |
OMIM:618339 |
Sjögren-Larsson Syndrome |
|
Urticaria, Erythema, Dry skin, Hyperkeratosis, Ichthyosis |
ORPHA:816 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Skin erosion, Papule, Hyperkeratosis, Skin plaque, Thickened skin |
OMIM:247100 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Congenital nonbullous ichthyosiform erythroderma, Erythema, Hyperkeratosis, Ichthyosis, Palmoplan... |
OMIM:606545 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:2812 |
Psoriasis 2 |
|
Epidermal acanthosis, Hyperkeratosis, Scaling skin, Parakeratosis |
OMIM:602723 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Darier-White Disease |
|
Acrokeratosis, Hypermelanotic macule, Subungual hyperkeratotic fragments, Acantholysis, Pruritus,... |
OMIM:124200 |
Dermatitis Herpetiformis |
|
Macule, Urticaria, Eczema, Erythema, Pruritus, Skin vesicle |
ORPHA:1656 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Epidermal acanthosis, Cutis laxa, Dry skin, Generalized hyperkeratosis, Scaling skin, Generalized... |
ORPHA:2269 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Palmar hyperlinearity, Epidermal acanthosis, Congenital nonbullous ichthyosiform erythroderma, Or... |
OMIM:604777 |
Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair |
|
Coarse hair, Dry hair, Sparse hair, Onychogryposis of toenails |
OMIM:164680 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Skin nodule |
ORPHA:199267 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
Skin Fragility-Woolly Hair Syndrome |
|
Failure to thrive, Palmoplantar erythema, Fragile skin, Palmoplantar hyperkeratosis, Palmoplantar... |
OMIM:607655 |
Cutaneous Collagenous Vasculopathy |
|
Macule, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, Prominent superficial blood... |
ORPHA:280779 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Camptodactyly, ... |
ORPHA:2199 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
Cutaneous Small Vessel Vasculitis |
|
Urticaria, Skin rash, Recurrent skin infections, Cutis marmorata, Erythema, Papule, Purpura, Subc... |
ORPHA:889 |
Ichthyosis With Confetti |
|
Congenital nonbullous ichthyosiform erythroderma, Decreased body weight, Palmoplantar hyperkerato... |
OMIM:609165 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Scaling skin |
OMIM:614457 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Epidermal acanthosis |
OMIM:616295 |
Recessive X-Linked Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Dry skin |
ORPHA:461 |
Pemphigus Erythematosus |
|
Skin erosion, Localized skin lesion, Acantholysis, Erythematous plaque, Focal dermal aplasia/hypo... |
ORPHA:79480 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Woolly scalp hair, Woolly hair, Alopecia |
OMIM:601217 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Morphea, Inflammatory abnormality of the skin, Erythema, Scl... |
ORPHA:90158 |
Pemphigoid Gestationis |
|
Skin vesicle, Pruritus |
ORPHA:63275 |
Necrobiosis Lipoidica |
|
Telangiectasia of the skin, Inflammatory abnormality of the skin, Erythema, Fragile skin, Indurat... |
ORPHA:542592 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Skin nodule |
ORPHA:90160 |
Dermatofibrosarcoma Protuberans |
|
Skin ulcer, Thickened skin, Erythema, Subcutaneous nodule |
ORPHA:31112 |
Bazex Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Scaling skin, Palmoplantar keratoderma, Parakeratosis |
ORPHA:166113 |
Porokeratosis |
|
Pruritus, Cutaneous photosensitivity, Hyperkeratosis, Dermal atrophy |
ORPHA:79358 |
Dermatitis, Atopic |
|
Recurrent skin infections, Pallor, Eczema, Atopic dermatitis, Dry skin, Facial erythema, Ichthyos... |
OMIM:603165 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Epidermal hyperkeratosis, Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma |
OMIM:104100 |
Cardiofaciocutaneous Syndrome 2 |
|
Fine hair, Sparse hair, Curly hair, Absent eyebrow |
OMIM:615278 |
Vibratory Urticaria |
|
Facial erythema, Urticaria, Flushing |
OMIM:125630 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Angioma Serpiginosum |
|
Macule, Vascular skin abnormality, Erythema |
ORPHA:95429 |
Naxos Disease |
|
Sparse scalp hair, Abnormality of hair texture, Woolly hair, Curly hair |
ORPHA:34217 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Vasculitis in the skin... |
ORPHA:90159 |
Hypotrichosis Simplex Of The Scalp |
|
Epidermal acanthosis, Hyperkeratosis, Scaling skin, Parakeratosis |
ORPHA:90368 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Curly ... |
OMIM:602400 |
Erythema Of Acral Regions |
|
Erythema, Talipes equinovarus |
OMIM:227000 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane... |
OMIM:613736 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Quinquaud Folliculitis Decalvans |
|
Scarring alopecia of scalp, Erythema, Pustule, Recurrent skin infections |
ORPHA:346 |
Maculopapular Cutaneous Mastocytosis |
|
Macule, Flushing, Dermatographic urticaria, Generalized abnormality of skin, Erythema, Yellow pap... |
ORPHA:79457 |
Lichen Planopilaris |
|
Papule, Hyperkeratosis, Pruritus, Skin ulcer, Hypopigmented skin patches, Dermal atrophy |
ORPHA:525 |
Rare Cutaneous Lupus Erythematosus |
|
Telangiectasia of the skin, Urticaria, Vascular skin abnormality, Discoid lupus rash, Maculopapul... |
ORPHA:535 |
Hypotrichosis 7 |
|
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... |
OMIM:604379 |
Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Hyperkeratosis, Scaling skin, Dry skin |
OMIM:609180 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Early cutaneous photosensitivity, Erythema, Death in infancy |
OMIM:219095 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Folliculitis, Dry skin, Follicular hyperkeratosis, Facial erythema, Palmoplantar keratoderma, Sca... |
OMIM:308800 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hypermelanotic macule, Palmar hyperkeratosis, Plantar hyperkeratosis, Cutaneous photosensitivity,... |
ORPHA:79397 |
Warty Dyskeratoma |
|
Epidermal thickening, Acrokeratosis, Localized skin lesion, Acantholysis, Umbilicated nodule, Ery... |
ORPHA:69745 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Epidermal acanthosis, Short toe, Congenital nonbullous ichthyosiform erythroderma, Erythema, Hype... |
OMIM:242100 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:616099 |
Crandall Syndrome |
|
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair |
ORPHA:202 |
Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes |
OMIM:615896 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Fragile skin, Palmoplantar hyperkeratosis, Scaling skin, Palmoplantar blistering, Ectodermal dysp... |
OMIM:604536 |
Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma, Hyperkeratosis |
OMIM:136630 |
Localized Epidermolysis Bullosa Simplex |
|
Skin erosion, Palmar hyperkeratosis, Plantar hyperkeratosis, Milia, Erythematous papule, Skin pla... |
ORPHA:79400 |
Wells Syndrome |
|
Skin vesicle, Pruritus |
ORPHA:901 |
Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Piezogenic pedal papules, Yellow papule, Palmoplantar hyperkeratosis, Skin plaque... |
ORPHA:38 |
Monilethrix |
|
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... |
ORPHA:573 |
Erythema Nodosum, Familial |
|
Erythema, Erythema nodosum |
OMIM:132990 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Facial telangiectasia in butterfly midface distribution, Epi... |
OMIM:137940 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypermelanotic macule, Multiple lentigines, Hyperkeratosis, Cafe-au-lait spot, Hypopigmented skin... |
OMIM:145250 |
Acral Self-Healing Collodion Baby |
|
Lack of skin elasticity, Erythema, Palmoplantar scaling skin, Localized epidermolytic hyperkeratosis |
ORPHA:281127 |
Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
Mastocytosis, Cutaneous |
|
Telangiectasia macularis eruptiva perstans, Urticaria, Hypermelanotic macule, Erythema |
OMIM:154800 |
Familial Keratoacanthoma |
|
Skin ulcer, Hyperkeratosis, Papule, Subcutaneous nodule |
ORPHA:493 |
Acrokeratosis Verruciformis Of Hopf |
|
Hyperkeratosis, Skin plaque, Punctate palmoplantar hyperkeratosis, Skin-colored papule, Hypergran... |
ORPHA:79151 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Pityriasis Rubra Pilaris |
|
Pustule, Eczema, Subungual hyperkeratosis, Papule, Ichthyosis, Pruritus, Erythroderma, Palmoplant... |
ORPHA:2897 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma, Generalized hyperkeratosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
Copper Deficiency, Familial Benign |
|
Early balding, Curly hair |
OMIM:121270 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Erythroderma, Palmoplantar keratoderma, ... |
OMIM:602540 |
Irida Syndrome |
|
Pallor, Ichthyosis, Hyperkeratosis |
ORPHA:209981 |
Keratosis Pilaris Atrophicans |
|
Comedo, Erythema, Papule |
OMIM:604093 |
Trichodental Dysplasia |
|
Fine hair, Sparse hair, Brittle hair, Slow-growing hair |
OMIM:601453 |
Keratolytic Winter Erythema |
|
Palmoplantar hyperhidrosis, Erythema |
OMIM:148370 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Pustule, Annular cutaneous lesion, Psoriasiform lesion, Erythematous plaque, Intermittent general... |
ORPHA:284426 |
Pityriasis Rubra Pilaris |
|
Orthokeratosis, Subungual hyperkeratosis, Erythematous plaque, Palmoplantar keratoderma, Hypergra... |
OMIM:173200 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Congenital nonbullous ichthyosiform erythroderma, Linear arrays of macular hyperkeratoses in flex... |
OMIM:601952 |
Prolidase Deficiency |
|
Erythema, Dry skin, Papule, Aplasia/Hypoplasia of the skin, Cutaneous photosensitivity, Hyperkera... |
ORPHA:742 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Follicular hyperkeratosis |
OMIM:618546 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Erythema, Pustule, Parakeratosis |
OMIM:614204 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Orthokeratosis, Recurrent skin infections, Acantholysis, Erythroderma, Palmoplantar keratoderma, ... |
OMIM:615508 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Facial erythema, Bruising susceptibility |
OMIM:143850 |
Ichthyosis Vulgaris |
|
Palmar hyperlinearity, Absent keratohyalin granules, Ichthyosis, Dry skin |
OMIM:146700 |
Bjornstad Syndrome |
|
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... |
OMIM:262000 |
Focal Palmoplantar And Gingival Keratoderma |
|
Gingival hyperkeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Circumungual hyperke... |
ORPHA:2200 |
Keratolytic Winter Erythema |
|
Erythema, Pustule |
ORPHA:50943 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Acantholysis, Neonatal death, Aplasia cutis congenita, Skin erosion |
OMIM:609638 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis, Hypergranulosis |
OMIM:604117 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Dermal translucency, Poor wound healing, Bruising susceptibility |
OMIM:619120 |
Pyoderma Gangrenosum |
|
Pustule, Papule, Atrophic scars, Skin ulcer, Skin vesicle |
ORPHA:48104 |
Chromomycosis |
|
Vascular skin abnormality, Verrucous papule, Erythematous macule, Hyperparakeratosis, Serpiginous... |
ORPHA:182 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland... |
OMIM:614929 |
Dowling-Degos Disease 4 |
|
Epidermal acanthosis, Hypergranulosis |
OMIM:615696 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Ectodermal dysplasia, Syndactyly, Follicular hyperkeratosis, Macrotia, Palmoplantar keratoderma, ... |
OMIM:613576 |
Keratoderma Hereditarium Mutilans |
|
Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Papule, Ichthyosis |
ORPHA:494 |
Mycosis Fungoides |
|
Eczema, Erythema, Skin plaque, Pruritus, Psoriasiform dermatitis |
OMIM:254400 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Erythema, Papule, Hyperkeratosis, Pruritus, Skin ulcer |
ORPHA:1334 |
Basan Syndrome |
|
Epidermal acanthosis, Cutaneous syndactyly of toes, Tapered finger, Single transverse palmar crea... |
OMIM:129200 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:300918 |
Bullous Impetigo |
|
Recurrent bacterial skin infections, Erythema, Pustule |
ORPHA:36237 |
Porokeratosis 7, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175800 |
Lamellar Ichthyosis |
|
Lack of skin elasticity, Dry skin, Hyperkeratosis, Ichthyosis, Pruritus, Erythroderma |
ORPHA:313 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Ichthyosis Prematurity Syndrome |
|
Dermatographic urticaria, Follicular hyperkeratosis, Pruritus, Erythroderma, Generalized ichthyosis |
OMIM:608649 |
Peeling Skin Syndrome 6 |
|
Pruritus, Orthokeratosis, Parakeratosis |
OMIM:618084 |
Onychotrichodysplasia And Neutropenia |
|
Short eyelashes, Trichorrhexis nodosa, Curly eyelashes, Sparse pubic hair, Concave nail, Curly ha... |
OMIM:258360 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Urticaria, Macule, Erythema, Papule, Pruritus, Subcutaneous nodule, S... |
ORPHA:2135 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis |
OMIM:148500 |
Choroidal Atrophy-Alopecia Syndrome |
|
Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Fi... |
ORPHA:1433 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Onychomycosis, Dermatographic urticaria, Erythema, Angioedema, Cold urticaria, Recurrent otitis m... |
OMIM:614468 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar ke... |
OMIM:148700 |
Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
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 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Dermal atrophy |
OMIM:136300 |
Olmsted Syndrome 2 |
|
Palmoplantar hyperkeratosis, Perioral hyperkeratosis, Hyperkeratosis, Pruritus, Palmoplantar kera... |
OMIM:619208 |
Rothmund-Thomson Syndrome, Type 1 |
|
Cafe-au-lait spot, Hyperkeratosis |
OMIM:618625 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Fine hair, Abnormal toenail morphology, Abnormal hair m... |
ORPHA:248 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Aplasia/Hypoplasia of the skin, Skin vesicle, Papule, Dermal atrophy |
ORPHA:257 |
Immunodeficiency 58 |
|
Onychomycosis, Failure to thrive, Recurrent upper respiratory tract infections, Helicobacter pylo... |
OMIM:618131 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Bruising susceptibility, Follicular hyperkeratosis |
ORPHA:300179 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema |
ORPHA:90157 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Dermal translucency, Poor wound healing, Bruising susceptibility |
OMIM:619115 |
Sydenham Chorea |
|
Recurrent streptococcus pneumoniae infections, Erythema |
ORPHA:306731 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Peeling Skin Syndrome 3 |
|
White scaling skin |
OMIM:616265 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fissure, Thickened skin |
ORPHA:659 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Facial erythema, Palmoplantar keratoderma, Scarring alopecia of scalp, Folliculitis |
OMIM:612843 |
Primary Erythromelalgia |
|
Erythema, Pruritus |
ORPHA:90026 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Skin rash, Eczema, Generalized abnormality of skin, Papule, Pruritus, Skin ulcer, Skin vesicle |
ORPHA:2314 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis |
OMIM:616029 |
Bullous Pemphigoid |
|
Urticaria, Weight loss, Erythema, Recurrent infections |
ORPHA:703 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Erythroderma, H... |
OMIM:615023 |
Palmoplantar Keratoderma, Epidermolytic |
|
Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmar hyperkeratosis, Palmoplant... |
OMIM:144200 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis |
OMIM:148600 |
Rosaï-Dorfman Disease |
|
Erythema, Papule, Subcutaneous nodule |
ORPHA:158014 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Erythema |
OMIM:194400 |
Porokeratosis 3, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175900 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Dry skin, Cutis laxa |
OMIM:105250 |
Dwarfism, Familial, With Muscle Spasms |
|
Sparse scalp hair, Fine hair, Brittle scalp hair |
OMIM:600771 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Erythema, Papule |
ORPHA:79099 |
Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
Proteus Syndrome |
|
Nevus, Epidermal nevus, Hyperkeratosis |
OMIM:176920 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fungal infections, Erythema, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Re... |
OMIM:147060 |
Olmsted Syndrome 1 |
|
Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy, Pruritus, Palmoplant... |
OMIM:614594 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Ichthyosis, Hypergranulosis, Epidermal acanthosis |
OMIM:615022 |
Lipoid Proteinosis |
|
Pustule, Subcutaneous nodule, Papule, Hyperkeratosis, Acne, Thickened skin |
ORPHA:530 |
Corneodermatoosseous Syndrome |
|
Abnormality of finger, Abnormality of the hand, Erythema, Brachydactyly, Abnormal metacarpal morp... |
ORPHA:3194 |
Diffuse Cutaneous Mastocytosis |
|
Urticaria, Dermatographic urticaria, Flushing, Generalized abnormality of skin, Darier's sign, Sc... |
ORPHA:79456 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Plantar hyperkeratosis, Pruritus |
OMIM:616487 |
Fixed Drug Eruption |
|
Skin detachment, Skin erosion, Generalized abnormality of skin, Erythema, Erythematous plaque, Cr... |
ORPHA:293812 |
Leopard Syndrome 3 |
|
Dry skin, Multiple lentigines, Numerous nevi, Hyperkeratosis, Epidermal hyperkeratosis, Few cafe-... |
OMIM:613707 |
Aicardi-Goutieres Syndrome 5 |
|
Scaling skin, Dry skin |
OMIM:612952 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Acne inversa, Hypohidrosis, Hyperkeratosis, Nail dystrophy, Hypoplastic sweat glands |
OMIM:617337 |
Odontoonychodermal Dysplasia |
|
Orthokeratosis, Palmoplantar erythema, Plantar hyperkeratosis, Erythema, Dry skin, Follicular hyp... |
OMIM:257980 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Ridged nail, Fine hair, Slow-growing hair |
OMIM:129490 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cutis laxa, Eczema, Dry skin, Hyperkeratosis, Ichthyosis |
OMIM:612379 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Cutaneous photosensitivity, Erythema, Pruritus |
ORPHA:79278 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Dermal translucency |
ORPHA:529965 |
Kid Syndrome |
|
Recurrent candida infections, Failure to thrive, Recurrent bacterial skin infections, Epidermal a... |
ORPHA:477 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypoplastic toenails, Fragile nails, Ridged fingernail, Abnormal fingernail morphology, Hypoplast... |
ORPHA:2228 |
Oculotrichodysplasia |
|
Scaling skin, Dry skin |
OMIM:257960 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Erythema, Scaling skin |
ORPHA:90156 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Flushing, Eczematoid dermatitis, Redundant skin, Erythema, Palmoplantar hyperkeratosis, Seborrhei... |
OMIM:259100 |
Granulomatous Slack Skin |
|
Redundant skin, Erythema, Cutis laxa |
ORPHA:33111 |
Porphyria Variegata |
|
Skin erosion, Localized skin lesion, Cutaneous photosensitivity, Milia, Skin vesicle, Thickened skin |
ORPHA:79473 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Coarse hair, Curly hair, Synophrys |
OMIM:616351 |
Sweet Syndrome |
|
Pustule, Acne inversa, Acne, Erythematous plaque, Erythematous papule, Skin nodule, Skin vesicle,... |
ORPHA:3243 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis, Erythr... |
OMIM:242300 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Dry skin, Follicular hyperkeratosis, Postaxial hand polydactyly, Scaling skin, Hearing impairment... |
OMIM:308205 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Melanocytic nevus, Hyperkeratosis |
ORPHA:1573 |
Ramon Syndrome |
|
Telangiectasia of the skin, Hyperkeratosis |
ORPHA:3019 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cutis laxa, Excessive wrinkled skin, Prominent superficial veins, Thin skin, Dermal translucency |
OMIM:614438 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
Mednik Syndrome |
|
Ichthyosis, Hyperkeratosis |
ORPHA:171851 |
Lethal Acantholytic Erosive Disorder |
|
Abnormal pinna morphology, Clinodactyly of the 5th finger, Abnormal helix morphology, Camptodacty... |
ORPHA:158687 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Flexion contracture of finger, Sclerodactyly, Poor wound healing, Unilateral deafness, Dry skin, ... |
ORPHA:1010 |
Protoporphyria, Erythropoietic, 1 |
|
Eczema, Erythema, Pruritus |
OMIM:177000 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Coarse hair, Sparse or absent eyelash... |
ORPHA:113 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Skin ulcer, Poor wound healing, Hyperkeratosis, Penetrating foot ulcers |
ORPHA:36386 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Nail dysplasia, Thick eyebrow, Facial hirsutism, Curly eyelashes, Multiple rows of eyelashes, Cur... |
ORPHA:163654 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Dry skin, Ichthyosis, Hyperkeratosis, Death in infancy |
OMIM:610768 |
Familial Cold Urticaria |
|
Urticaria, Erythema, Pruritus |
ORPHA:47045 |
Glutamine Deficiency, Congenital |
|
Erythema, Micromelia, Camptodactyly, Low-set ears, Recurrent respiratory infections |
OMIM:610015 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Dyskeratosis Congenita |
|
Telangiectasia of the skin, Macule, Hypermelanotic macule, Aplasia/Hypoplasia of the skin, Palmop... |
ORPHA:1775 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Talipes equinovarus, Ichthyosis, Sca... |
ORPHA:35173 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent candida infections, Failure to thrive, Recurrent upper respiratory tract infections, Re... |
ORPHA:169154 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Acanthosis nigricans, Dry skin, Hyperkeratosis, Ichthyosis, Parakeratosis |
OMIM:618527 |
Clouston Syndrome |
|
Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Alop... |
OMIM:129500 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Orthokeratosis, Dry skin, Ichthyosis, Jaundice, Parakeratosis |
OMIM:607626 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Severe var... |
OMIM:606367 |
Cardiofaciocutaneous Syndrome 4 |
|
Sparse hair, Absent eyebrow, Sparse eyelashes, Curly hair, Alopecia of scalp |
OMIM:615280 |
Harlequin Ichthyosis |
|
Erythroderma, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma |
ORPHA:457 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
Noonan Syndrome 6 |
|
Curly hair, Sparse hair, Low posterior hairline, Long eyebrows |
OMIM:613224 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Failure to thrive, Sepsis, Fragile skin, Follicular hyperkeratosis, Recurrent pneumonia, Scaling ... |
ORPHA:158668 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Pili torti, Hypoplastic toenails, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Alopecia,... |
OMIM:613573 |
Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Alopecia, Dystrophic toenail, Fine hair, Dystrophic fingernails |
ORPHA:1882 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Sparse hair |
ORPHA:1174 |
Lymphatic Malformation 12 |
|
Hyperkeratosis, Death in adolescence, Neonatal death |
OMIM:620014 |
Pilodental Dysplasia With Refractive Errors |
|
Follicular hyperkeratosis, Ectodermal dysplasia |
OMIM:262020 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Epidermal acanthosis, Orthokeratosis, Parakeratosis, Absent middle phalanx of 3rd finger, Absent ... |
OMIM:308050 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
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Telangiectasia of the skin, Telangiectasia, Hyperkeratosis |
ORPHA:79279 |
Noonan Syndrome 5 |
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Curly hair, Fine hair, Sparse eyebrow, Small nail |
OMIM:611553 |
Peeling Skin Syndrome 1 |
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Palmoplantar hyperhidrosis, Scaling skin |
OMIM:270300 |
Noonan Syndrome 9 |
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Curly hair, Sparse eyebrow |
OMIM:616559 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
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Hidrotic ectodermal dysplasia, Sensorineural hearing impairment, Arachnodactyly, Camptodactyly of... |
ORPHA:1883 |
Polyarteritis Nodosa |
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Skin ulcer, Cutis marmorata, Weight loss, Erythema |
ORPHA:767 |
Palmoplantar Carcinoma, Multiple Self-Healing |
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Epidermal acanthosis, Finger joint hypermobility, Follicular hyperkeratosis, Palmoplantar keratod... |
OMIM:615225 |
Cardiofaciocutaneous Syndrome 3 |
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Curly hair |
OMIM:615279 |
Meige Disease |
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Recurrent bacterial skin infections, Skin erosion, Recurrent skin infections, Skin dimple, Atypic... |
ORPHA:90186 |
Xeroderma Pigmentosum |
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Telangiectasia of the skin, Macule, Hypermelanotic macule, Erythema, Conjunctival telangiectasia,... |
ORPHA:910 |
Chikungunya |
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Macule, Petechiae, Skin rash, Maculopapular exanthema, Erythema, Cutaneous photosensitivity, Crus... |
ORPHA:324625 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
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Palmoplantar keratoderma, Plantar hyperkeratosis, Epidermal acanthosis |
OMIM:615735 |
Pachyonychia Congenita 1 |
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Palmoplantar hyperkeratosis, Follicular hyperkeratosis |
OMIM:167200 |
Hereditary Acrokeratotic Poikiloderma |
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Telangiectasia of the skin, Urticaria, Pustule, Eczema, Erythema, Papule, Palmoplantar hyperkerat... |
ORPHA:2907 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the skin, Papule, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperk... |
ORPHA:79280 |
Trichothiodystrophy 2, Photosensitive |
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Coarse hair, Tiger tail banding |
OMIM:616390 |
De Barsy Syndrome |
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Prominent veins on trunk, Progeroid facial appearance, Cutis laxa, Excessive wrinkled skin, Thin ... |
ORPHA:2962 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Sensorineural hearing impairment, Small for gestational age, Overfolded helix, Bifid distal phala... |
OMIM:618419 |
Neonatal Lupus Erythematosus |
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Skin rash, Maculopapular exanthema, Cutaneous photosensitivity, Hyperkeratosis, Erythematous plaq... |
ORPHA:398124 |
Fountain Syndrome |
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Sensorineural hearing impairment, Short distal phalanx of finger, Metaphyseal dysplasia, Cutis ma... |
ORPHA:3219 |
Pili Torti-Onychodysplasia Syndrome |
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Alopecia universalis, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Congenital onycho... |
ORPHA:2890 |
Netherton Syndrome |
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Urticaria, Congenital nonbullous ichthyosiform erythroderma, Angioedema, Erythroderma, Parakeratosis |
OMIM:256500 |
Xeroderma Pigmentosum, Complementation Group F |
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Decreased body weight, Hearing impairment, Cutaneous photosensitivity, Erythema |
OMIM:278760 |
Braddock-Carey Syndrome 1 |
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Curly hair, Sparse hair |
OMIM:619980 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
Naxos Disease |
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Diffuse palmoplantar hyperkeratosis, Subungual hyperkeratosis, Fragile skin, Acantholysis, Hyperk... |
OMIM:601214 |
Congenital Lethal Erythroderma |
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Urticaria, Congenital exfoliative erythroderma, Dry skin, Ichthyosis, Death in infancy |
ORPHA:1954 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Pustule, Perioral erythema, Erythroderma, Perianal erythema |
OMIM:614328 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
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Follicular hyperkeratosis |
OMIM:277350 |
Linear Verrucous Nevus Syndrome |
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Hyperkeratosis, Verrucous papule |
ORPHA:2611 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Generalized abnormality of ... |
ORPHA:79396 |
Hawkinsinuria |
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Fine hair, Sparse hair |
ORPHA:2118 |
Immunodeficiency 23 |
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Sensorineural hearing impairment, Conductive hearing impairment, Failure to thrive, Vasculitis in... |
OMIM:615816 |
Mycetoma |
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Recurrent bacterial skin infections, Cutaneous cyst, Prominent superficial veins, Subcutaneous no... |
ORPHA:2583 |
Restrictive Dermopathy |
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Skin erosion, Epidermal hyperkeratosis, Generalized hyperkeratosis, Scaling skin, Dermal transluc... |
ORPHA:1662 |
Pachyonychia Congenita |
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Cutaneous cyst, Palmar hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural areas,... |
ORPHA:2309 |
Popov-Chang syndrome |
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Failure to thrive, Clinodactyly of the 5th finger, Small hand, Dry skin, Hyperkeratosis, Short fo... |
OMIM:618428 |
Syndromic Recessive X-Linked Ichthyosis |
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Ichthyosis, Hyperkeratosis |
ORPHA:281090 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Nail dysplasia, Progressive hypotrichosis, Abnormality of hair texture, Sparse eyebrow, Sparse ey... |
OMIM:225060 |
Bacterial Toxic-Shock Syndrome |
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Severe infection, Sepsis, Recurrent urinary tract infections, Severe varicella zoster infection, ... |
ORPHA:36234 |
Mpdu1-Cdg |
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Ichthyosis, Scaling skin |
ORPHA:79323 |
Graft Versus Host Disease |
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Recurrent gastroenteritis, Failure to thrive, Dupuytren contracture, Limited elbow movement, Recu... |
ORPHA:39812 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Dermal translucency |
ORPHA:541423 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
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Angioedema, Erythema |
ORPHA:100057 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Failure to thrive, Cutis marmorata, Erythema, Recurrent infections, Livedo reticularis, Telangiec... |
OMIM:615934 |
Hidrotic Ectodermal Dysplasia, Halal Type |
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Multiple cafe-au-lait spots, Follicular hyperkeratosis |
ORPHA:1809 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Failure to thrive, Sepsis, Recurrent sinusitis, Psoriasiform lesion, Recurrent infections, Recurr... |
OMIM:614700 |
Noonan Syndrome 8 |
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Failure to thrive, Palmoplantar cutis laxa, Large for gestational age, Hyperkeratosis, Low-set ears |
OMIM:615355 |
Subcorneal Pustular Dermatosis |
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Erythema, Pustule, Pruritus |
ORPHA:48377 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
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Coarse hair, Sparse hair |
OMIM:619985 |
Neutrophilic Dermatosis, Acute Febrile |
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Cystic acne, Acne inversa, Erythema, Pyoderma gangrenosum |
OMIM:608068 |
Complex Regional Pain Syndrome |
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Edema of the upper limbs, Erythema, Dry skin |
ORPHA:83452 |
Donohue Syndrome |
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Severe failure to thrive, Acanthosis nigricans, Large hands, Hyperkeratosis, Recurrent infections... |
OMIM:246200 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
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Abnormal antihelix morphology, Clinodactyly of the 5th finger, Abnormal helix morphology, Synosto... |
ORPHA:1005 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
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Curly hair |
OMIM:256850 |
Kindler Epidermolysis Bullosa |
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Recurrent skin infections, Erythema, Aplasia/Hypoplasia of the skin, Cutaneous photosensitivity, ... |
ORPHA:2908 |
Riddle Syndrome |
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Erythema, Conjunctival telangiectasia, Recurrent sinusitis, Weight loss, Scaling skin, Recurrent ... |
ORPHA:420741 |
Warburg-Cinotti Syndrome |
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Conductive hearing impairment, Flexion contracture of finger, Hypoplasia of the ear cartilage, Po... |
OMIM:618175 |
Smith-Kingsmore Syndrome |
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Curly hair |
OMIM:616638 |
Noonan Syndrome 7 |
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Curly hair, Low posterior hairline |
OMIM:613706 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
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Recurrent bronchiolitis, Failure to thrive, Recurrent pneumonia, Epidermal acanthosis |
OMIM:616069 |
Ectodermal Dysplasia-Blindness Syndrome |
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Protruding ear, Hyperkeratosis, Skin ulcer, Hearing impairment, Recurrent respiratory infections |
ORPHA:1806 |
Autoinflammation With Arthritis And Dyskeratosis |
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Failure to thrive, Epidermal acanthosis, Dry skin, Follicular hyperkeratosis, Palmoplantar hyperk... |
OMIM:617388 |
Amaurosis-Hypertrichosis Syndrome |
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Coarse hair, Abnormal eyelash morphology, Thick eyebrow, Synophrys |
ORPHA:1021 |
Costello Syndrome |
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Large earlobe, Lack of skin elasticity, Redundant skin, Acanthosis nigricans, Low-set, posteriorl... |
ORPHA:3071 |
Oral Erosive Lichen |
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Erythema, Dry skin |
ORPHA:31142 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hyperkeratosis, Sho... |
ORPHA:163966 |
Barber-Say Syndrome |
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Redundant skin, Dry skin, Premature skin wrinkling, Dermal translucency, Dermal atrophy |
OMIM:209885 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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Dermal translucency, Cafe-au-lait spot, Preauricular pit, Thin skin |
OMIM:617506 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Dermal translucency, Thin skin, Bruising susceptibility, Atrophic scars |
ORPHA:536467 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
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Thick eyebrow, Highly arched eyebrow, Curly hair, Low posterior hairline |
OMIM:617360 |
Snakebite Envenomation |
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Angioedema, Erythema, Ecchymosis, Localized skin lesion |
ORPHA:449285 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Bronchiolitis, Recurrent sinopulmonary infections, Erythema |
OMIM:614878 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Recurrent candida infections, Perioral erythema, Failure to thrive, Dry skin, Perianal erythema |
OMIM:201100 |
Spinocerebellar Ataxia 34 |
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Epidermal hyperkeratosis, Erythroderma |
OMIM:133190 |
Kanzaki Disease |
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Dry skin, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkeratosis, Angiokeratoma co... |
OMIM:609242 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
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Cutis marmorata, Hyperkeratosis, Recurrent pneumonia, Failure to thrive in infancy, Clubbing |
OMIM:301220 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Urticaria, Erythema, Papule, Purpura, Acrocyanosis |
ORPHA:343 |
Milroy Disease |
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Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Immunoglobulin A Vasculitis |
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Macule, Urticaria, Vascular skin abnormality, Pustule, Bruising susceptibility, Skin rash, Erythe... |
ORPHA:761 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
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Death in childhood, Erythema, Neonatal death, Ichthyosis, Death in infancy |
OMIM:609313 |
Toxic Epidermal Necrolysis |
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Skin ulcer, Macule, Acantholysis, Erythema |
ORPHA:537 |
Trichohepatoneurodevelopmental Syndrome |
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Hypertrichosis, Woolly hair, Coarse hair, Hypoplastic nipples, Synophrys, Curly hair |
OMIM:618268 |
Poikiloderma With Neutropenia |
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Skin rash, Plantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, Telangiectasia, Derm... |
OMIM:604173 |
Trichothiodystrophy 1, Photosensitive |
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Protruding ear, Congenital nonbullous ichthyosiform erythroderma, Small for gestational age, Dry ... |
OMIM:601675 |
Ullrich Congenital Muscular Dystrophy 1 |
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Slender build, Failure to thrive, Protruding ear, Talipes equinovarus, Increased laxity of finger... |
OMIM:254090 |
Huriez Syndrome |
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Epidermal acanthosis, Tapered finger, Congenital palmoplantar hyperkeratosis |
OMIM:181600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
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Curly hair |
OMIM:300986 |
Chops Syndrome |
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Thick eyebrow, Coarse hair, Long eyelashes, Synophrys, Thick hair, Curly hair |
OMIM:616368 |
Noonan Syndrome 4 |
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High anterior hairline, Curly hair, Sparse eyebrow |
OMIM:610733 |
Noonan Syndrome 14 |
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Curly hair, Sparse hair, Sparse eyebrow, Low posterior hairline |
OMIM:619745 |
Incontinentia Pigmenti |
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Telangiectasia of the skin, Absent hand, Camptodactyly of finger, Erythema, Deviation of finger, ... |
ORPHA:464 |
Congenital Disorder Of Glycosylation, Type Iil |
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Failure to thrive, Postaxial polydactyly, Dry skin, Hyperkeratosis, Recurrent infections |
OMIM:614576 |
Neonatal Inflammatory Skin And Bowel Disease |
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Recurrent gastroenteritis, Recurrent bacterial skin infections, Generalized abnormality of skin, ... |
ORPHA:294023 |
Rothmund-Thomson Syndrome Type 2 |
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Metaphyseal sclerosis, Small for gestational age, Plantar hyperkeratosis, Synostosis involving bo... |
ORPHA:221016 |
Ritscher-Schinzel Syndrome 4 |
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Curly hair |
OMIM:619435 |
Trichothiodystrophy 4, Nonphotosensitive |
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Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela... |
OMIM:234050 |
Chime Syndrome |
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Aplasia/Hypoplasia of the phalanges of the toes, Erythema, Hyperkeratosis, Ichthyosis, Short foot... |
ORPHA:3474 |
Incontinentia Pigmenti |
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Pallor, Maculopapular exanthema, Hyperkeratosis, Erythema |
OMIM:308300 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Curly hair |
ORPHA:457485 |
Stevens-Johnson Syndrome |
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Sepsis, Erythema, Acantholysis, Weight loss, Recurrent respiratory infections |
ORPHA:36426 |
Hereditary Mucoepithelial Dysplasia |
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Hyperkeratosis |
ORPHA:1839 |
Punctate Palmoplantar Keratoderma Type 1 |
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Esophageal neoplasm, Hodgkin lymphoma, Orthokeratosis, Breast carcinoma, Stomach cancer, Prostate... |
ORPHA:79501 |
Fontaine Progeroid Syndrome |
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Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Neonatal death,... |
OMIM:612289 |
Autosomal Dominant Cerebellar Ataxia |
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Hyperkeratosis, Erythema |
ORPHA:99 |
Hypohidrotic Ectodermal Dysplasia |
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Thin skin, Eczema, Hyperkeratosis, Dry skin |
ORPHA:238468 |
Microscopic Polyangiitis |
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Subcutaneous hemorrhage, Skin rash, Cutis marmorata, Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:727 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Macule, Pustule, Skin rash, Erythema, Angioedema, Erythroderma |
ORPHA:139402 |
Sialidosis Type 1 |
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Vascular skin abnormality, Hyperkeratosis |
ORPHA:812 |
Autosomal Dominant Cutis Laxa |
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Prematurely aged appearance, Cutis laxa, Redundant skin, Premature skin wrinkling, Dermal translu... |
ORPHA:90348 |
Tricho-Retino-Dento-Digital Syndrome |
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Uncombable hair, Sparse hair |
ORPHA:1264 |
Pachyonychia Congenita 3 |
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Palmar hyperkeratosis, Plantar hyperkeratosis, Follicular hyperkeratosis, Palmoplantar keratoderm... |
OMIM:615726 |
Familial Tumoral Calcinosis |
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Skin rash, Erythema, Periarticular subcutaneous nodules, Subcutaneous nodule, Hypopigmented skin ... |
ORPHA:53715 |
Werner Syndrome |
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Telangiectasia of the skin, Subcutaneous calcification, Miscarriage, Prematurely aged appearance,... |
ORPHA:902 |
Rheumatic Fever |
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Pallor, Macule, Erythema, Subcutaneous nodule |
ORPHA:3099 |
Porphyria Cutanea Tarda |
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Recurrent bacterial skin infections, Poor wound healing, Fragile skin, Cutaneous photosensitivity... |
ORPHA:101330 |
Tyrosinemia Type 2 |
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Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:28378 |
Aicardi-Goutieres Syndrome 1 |
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Petechiae, Erythema, Chilblains, Purpura, Prolonged neonatal jaundice, Acrocyanosis |
OMIM:225750 |
Adult-Onset Still Disease |
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Skin rash, Erythema, Pruritus |
ORPHA:829 |
Pituitary Adenoma 4, Acth-Secreting |
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Abdominal obesity, Bruising susceptibility, Poor wound healing, Facial erythema, Purpura, Striae ... |
OMIM:219090 |
Lig4 Syndrome |
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Telangiectasia of the skin, Cutaneous photosensitivity, Erythema, Clinodactyly of the 5th finger |
ORPHA:99812 |
Oculodentodigital Dysplasia |
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Sparse hair, Brittle hair, Abnormal fingernail morphology, Fine hair, Slow-growing hair, Abnormal... |
ORPHA:2710 |
Bazex Syndrome |
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Pili torti, Sparse hair, Coarse hair, Trichorrhexis nodosa, Trichoepithelioma |
OMIM:301845 |
Localized Scleroderma |
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Skin erosion, Erythema, Localized skin lesion, Erythematous plaque, Cutaneous sclerotic plaque, H... |
ORPHA:90289 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Curly hair |
ORPHA:85184 |
Arthrogryposis And Ectodermal Dysplasia |
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Atypical scarring of skin, Hyperkeratosis, Dry skin, Ectodermal dysplasia |
OMIM:601701 |
Fibromuscular Dysplasia, Multifocal |
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Dermal translucency, Striae distensae, Atrophic scars |
OMIM:619329 |
Nodular Non-Suppurative Panniculitis |
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Aplasia/Hypoplasia of the skin, Erythema, Subcutaneous nodule |
ORPHA:33577 |
Cardiofaciocutaneous Syndrome 1 |
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Sparse hair, Absent eyebrow, Absent eyelashes, Slow-growing hair, Curly hair, Low posterior hairline |
OMIM:115150 |
Trichohepatoenteric Syndrome 1 |
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Woolly hair, Sparse hair, Brittle hair, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:222470 |
Acrodermatitis Enteropathica |
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Failure to thrive, Generalized abnormality of skin, Erythema, Dry skin, Skin ulcer, Weight loss |
ORPHA:37 |
Gaucher Disease, Perinatal Lethal |
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Congenital nonbullous ichthyosiform erythroderma, Petechiae, Neonatal death, Hyperkeratosis, Purp... |
OMIM:608013 |
Trichohepatoenteric Syndrome 2 |
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Woolly hair, Sparse hair, Brittle hair, Trichorrhexis nodosa, Uncombable hair |
OMIM:614602 |
Rothmund-Thomson Syndrome Type 1 |
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Short metacarpal, Metaphyseal sclerosis, Small for gestational age, Plantar hyperkeratosis, Metap... |
ORPHA:221008 |
Cataract, Aberrant Oral Frenula, And Growth Retardation |
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Curly hair |
OMIM:115645 |
Juvenile Idiopathic Arthritis |
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Skin rash, Generalized hyperkeratosis, Psoriasiform dermatitis, Thickened skin |
ORPHA:92 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
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Facial erythema |
OMIM:618307 |
Premature Aging Syndrome, Penttinen Type |
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Hyperkeratosis |
OMIM:601812 |
Leukocyte Adhesion Deficiency Type Ii |
|
Skin vesicle |
ORPHA:99843 |
Chronic Graft Versus Host Disease |
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Morphea, Poor wound healing, Erythema, Intermittent generalized erythematous papular rash, Skin u... |
ORPHA:99921 |
Juvenile Dermatomyositis |
|
Telangiectasia of the skin, Mucosal telangiectasiae, Skin rash, Erythema, Dry skin, Cutaneous pho... |
ORPHA:93672 |
Ifap Syndrome 2 |
|
Ichthyosis follicularis, Perioral erythema |
OMIM:619016 |
Rat-Bite Fever |
|
Meningitis, Sepsis, Weight loss, Scaling skin |
ORPHA:31205 |
Pachyonychia Congenita 2 |
|
Epidermoid cyst, Subungual hyperkeratosis, Folliculitis, Palmoplantar hyperkeratosis |
OMIM:167210 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Hyperkeratosis, Pustule, Skin rash |
OMIM:612852 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dysplasia, Abnormality of hair texture, Nail dystrophy |
OMIM:601957 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Failure to thrive, Urticaria, Ectrodactyly, Abnormality of the hand, Recurrent bacterial infectio... |
ORPHA:2273 |
Parkes Weber Syndrome |
|
Abnormal femoral metaphysis morphology, Prominent superficial blood vessels, Abnormality of the u... |
ORPHA:90307 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Coarse metaphyseal trabecularization, Abnormal palmar dermatoglyphics... |
ORPHA:2092 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Prominent scalp veins, Recurren... |
ORPHA:3455 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Palmar pits, Epidermal acanthosis |
OMIM:618267 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
Bloom Syndrome |
|
Protruding ear, Clinodactyly of the 5th finger, Facial telangiectasia in butterfly midface distri... |
OMIM:210900 |
Cardiofaciocutaneous Syndrome |
|
Abnormal morphology of ulna, Excessive wrinkled skin, Redundant skin, Deep palmar crease, Low-set... |
ORPHA:1340 |
Kikuchi-Fujimoto Disease |
|
Macule, Skin erosion, Vasculitis in the skin, Pustule, Skin rash, Erythematous macule, Erythema, ... |
ORPHA:50918 |
Fucosidosis |
|
Generalized hyperkeratosis, Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
Sunct Syndrome |
|
Facial erythema, Flushing |
ORPHA:57145 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Epidermal hyperkeratosis, Scaling skin, Rocker bottom foot, ... |
OMIM:275210 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyebrow, Sparse eyelashes, Trichiasis, Absent pubic h... |
OMIM:148210 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Failure to thrive, Flexion contracture of finger, Progeroid facial appearance, Recurrent upper re... |
OMIM:256040 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Failure to thrive, Abnormal pinna morphology, Microtia, Short femur, Femoral bowing, Short humeru... |
OMIM:210710 |
Bone Marrow Failure Syndrome 3 |
|
Failure to thrive, Metaphyseal dysplasia, Cupped ear, Hyperkeratosis, Recurrent infections, Heari... |
OMIM:617052 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Sparse scalp hair, Sparse hair, Loose anagen hair, Long eyelashes, Curly hair |
OMIM:607721 |
Growth Hormone Insensitivity Syndrome |
|
Abnormality of the nail, Fine hair |
ORPHA:181393 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Death in childhood, Erythema, Skin rash |
OMIM:618321 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Low-set ears, Erythema, Hand clenching, Talipes equinovarus |
OMIM:614653 |
Tempi Syndrome |
|
Facial erythema, Telangiectasia |
ORPHA:284227 |
Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Woolly hair, Ridged fingernail, Widow's peak, Low posterior hairline |
ORPHA:1520 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Woolly hair, Sparse hair, Sparse eyebrow, Trichorrhexis nodosa |