Porokeratosis Plantaris Palmaris Et Disseminata |
|
Generalized abnormality of skin, Palmoplantar hyperkeratosis, Porokeratosis, Pruritus, Hyperkerat... |
ORPHA:737 |
Ulerythema Ophryogenesis |
|
Miscarriage, Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Acne, Hype... |
ORPHA:3406 |
Porokeratosis Of Mibelli |
|
Cutaneous photosensitivity, Hyperkeratosis, Porokeratosis, Pruritus |
ORPHA:735 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Hyperkeratosis, Scaling skin, Pruritus, Orthokeratotic hyperkeratosis |
OMIM:617571 |
Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Palmar pruritus, Edema, Palmoplantar keratoderma, Excessive skin wrinkling on ... |
ORPHA:498359 |
Acquired Ichthyosis |
|
Recurrent skin infections, Erythema, Dry skin, Hyperkeratosis, Ichthyosis, Pruritus, Palmoplantar... |
ORPHA:454 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Skin ulcer, Erythema, Pruritus |
ORPHA:2337 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections |
OMIM:244850 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Pruritus |
OMIM:146750 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Onychomycosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis |
|
Congenital bullous ichthyosiform erythroderma, Ichthyosis, Erythema, Palmoplantar hyperkeratosis |
OMIM:607602 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Onychomycosis, Diffuse palmoplantar hyperkeratosis, Atopic dermatitis, Erythema, Dry skin, Palmop... |
ORPHA:530838 |
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 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmoplantar erythema, Palmar pruritus... |
ORPHA:64745 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Erythema, Ichthyosis, Superficial dermal perivascular infla... |
ORPHA:87503 |
Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Erythema, Pruritus, Follicular hyperkeratosis |
ORPHA:79100 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Erythema, Dry skin, Hyperkeratosis, Pruritus, Edema, Skin ulcer |
ORPHA:2584 |
Keratosis, Focal Palmoplantar And Gingival |
|
Subungual hyperkeratosis, Circumungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Progressive Symmetric Erythrokeratodermia |
|
Palmoplantar keratoderma, Erythema |
ORPHA:316 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Sclerodactyly, Dry skin, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis |
OMIM:212360 |
Lamellar Ichthyosis |
|
Lack of skin elasticity, Dehydration, Sepsis, Dry skin, Hyperkeratosis, Ichthyosis, Pruritus, Ery... |
ORPHA:313 |
Erythrokeratodermia Variabilis |
|
Skin rash, Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Cutaneous phot... |
ORPHA:317 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Fragile skin |
OMIM:615028 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Palmoplantar keratoderma, Erythema |
OMIM:617524 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Hyperkeratosis, Cutaneous photosensitivity, Ichthyosis, Erythroderma, Palmoplantar ke... |
ORPHA:312 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis, Cutaneous photosensitivity |
ORPHA:1336 |
Cole Disease |
|
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis |
OMIM:615522 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Hypotrichosis 6 |
|
Erythema, Pruritus, Follicular hyperkeratosis |
OMIM:607903 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Morphea, Inflammatory abnormality of the skin, Erythema, Scl... |
ORPHA:90158 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:270220 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Cutaneous photosensitivity, Erythema, Pruritus |
ORPHA:33314 |
Dermatitis, Atopic |
|
Recurrent skin infections, Pallor, Eczema, Atopic dermatitis, Dry skin, Facial erythema, Ichthyos... |
OMIM:603165 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Pustule, Dehydration, Recurrent pneumonia, Edema, Recurrent bronchiolitis |
OMIM:616069 |
Acral Self-Healing Collodion Baby |
|
Edema of the dorsum of feet, Lack of skin elasticity, Erythema, Palmoplantar scaling skin, Edema ... |
ORPHA:281127 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections |
ORPHA:79503 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Flushing, Dermatographic urticaria, Telangiectasia macularis eruptiva... |
ORPHA:79455 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Mal De Meleda |
|
Perioral erythema, Ichthyosis, Congenital symmetrical palmoplantar keratosis |
OMIM:248300 |
Reticular Dysgenesis |
|
Failure to thrive, Skin rash, Dehydration, Sepsis, Skin ulcer, Weight loss, Recurrent respiratory... |
ORPHA:33355 |
Mastocytosis, Cutaneous |
|
Telangiectasia macularis eruptiva perstans, Urticaria, Erythema, Edema |
OMIM:154800 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Skin vesicle, Skin fragility with non-scarring blistering, Parakeratosis, Erythema migrans |
ORPHA:158681 |
Cutaneous Collagenous Vasculopathy |
|
Vascular skin abnormality, Petechiae, Diffuse telangiectasia, Skin rash, Bruising susceptibility,... |
ORPHA:280779 |
Chronic Hiccup |
|
Dehydration, Weight loss, Abnormal eating behavior |
ORPHA:396 |
Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Hyperkeratosis, Follicular hyperkeratosis |
ORPHA:69125 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Vulvovaginal Gingival Syndrome |
|
Erythema, Parakeratosis, Pruritus |
ORPHA:83453 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Erythema, Ichthyosis, Hyperkeratosis, Hypergranulosis |
OMIM:613943 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Erythema, Hyperkeratosis, Ichthyosis, Pruritus, Palmoplantar keratoderma, Parakeratosis |
OMIM:615821 |
Chilblain Lupus |
|
Pruritis on hand, Discoid lupus rash, Inflammatory abnormality of the skin, Skin rash, Cutis marm... |
ORPHA:90280 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Onychomycosis, Dermatographic urticaria, Erythema, Angioedema, Cold urticaria, Pruritus, Recurren... |
OMIM:614468 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythroderma, Palmoplantar kera... |
OMIM:615024 |
Superficial Epidermolytic Ichthyosis |
|
Erythema, Acantholysis, Ichthyosis, Edema, Palmoplantar keratoderma |
ORPHA:455 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Failure to thrive, Hyperkeratosis, Pruritus, Palmoplantar hyperkeratosis |
ORPHA:89838 |
Palmoplantar Keratoderma, Nagashima Type |
|
Hypergranulosis, Orthokeratotic hyperkeratosis |
OMIM:615598 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Palmar hyperkeratosis, Plantar hyperkeratosis, Hyperkeratosis, Pruritus, Skin fragility with non-... |
ORPHA:79399 |
Harlequin Ichthyosis |
|
Dehydration, Hyperkeratosis, Ichthyosis, Erythroderma, Congenital ichthyosiform erythroderma, Rec... |
ORPHA:457 |
Sjögren-Larsson Syndrome |
|
Urticaria, Erythema, Dry skin, Hyperkeratosis, Ichthyosis |
ORPHA:816 |
Familial Cold Urticaria |
|
Polydipsia, Urticaria, Dehydration, Erythema, Pruritus |
ORPHA:47045 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Pruritus |
OMIM:131850 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema |
ORPHA:90160 |
Quinquaud Folliculitis Decalvans |
|
Erythema, Pustule, Recurrent skin infections |
ORPHA:346 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
Cutaneous Small Vessel Vasculitis |
|
Urticaria, Skin rash, Recurrent skin infections, Cutis marmorata, Erythema, Purpura |
ORPHA:889 |
Erosive Pustular Dermatosis Of The Scalp |
|
Erythema, Pustule |
ORPHA:222 |
Bullous Impetigo |
|
Recurrent bacterial skin infections, Erythema, Pustule, Sepsis |
ORPHA:36237 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Excessive wrinkling of palmar skin, Ichthyosis, Scaling skin |
ORPHA:263534 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Erythema Nodosum, Familial |
|
Erythema, Erythema nodosum |
OMIM:132990 |
Verrucous Hemangioma |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin |
ORPHA:464318 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... |
ORPHA:79147 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... |
ORPHA:90159 |
Vibratory Urticaria |
|
Facial erythema, Urticaria, Flushing |
OMIM:125630 |
Bullous Pemphigoid |
|
Urticaria, Eczema, Erythema, Recurrent infections, Weight loss, Psoriasiform dermatitis |
ORPHA:703 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Palmar hyperkeratosis, Recurrent cutaneous fungal infections... |
ORPHA:495 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Perifollicular hyperkeratosis, Pruritus |
ORPHA:505 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Early cutaneous photosensitivity, Erythema, Death in infancy |
OMIM:219095 |
Protoporphyria, Erythropoietic, 1 |
|
Eczema, Erythema, Hypertriglyceridemia, Edema, Pruritus |
OMIM:177000 |
Primary Erythromelalgia |
|
Erythema, Pruritus, Recurrent respiratory infections |
ORPHA:90026 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Recurrent fungal infections, Skin rash, Erythema, Chronic mucocutaneous ca... |
OMIM:147060 |
Netherton Syndrome |
|
Urticaria, Congenital nonbullous ichthyosiform erythroderma, Skin rash, Eczema, Dehydration, Acan... |
ORPHA:634 |
Maculopapular Cutaneous Mastocytosis |
|
Flushing, Dermatographic urticaria, Generalized abnormality of skin, Erythema, Darier's sign, Pru... |
ORPHA:79457 |
Bazex Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Scaling skin, Pruritus, Edema, Palmoplantar keratoderma, Pa... |
ORPHA:166113 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:2812 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Erythema, Dry skin, Ichthyosis, Hyperkeratosis, Scaling skin |
OMIM:614457 |
Dermatofibrosarcoma Protuberans |
|
Skin ulcer, Erythema, Thickened skin |
ORPHA:31112 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Perifolliculitis, Acne inversa, Follicular hyperkeratosis, Recurrent cutane... |
OMIM:613736 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Congenital nonbullous ichthyosiform erythroderma, Erythema, Hyperkeratosis, Ichthyosis, Palmoplan... |
OMIM:606545 |
Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma, Hyperkeratosis, Recurrent lower respiratory tract infections |
OMIM:136630 |
Keratolytic Winter Erythema |
|
Erythema, Pustule |
ORPHA:50943 |
Netherton Syndrome |
|
Failure to thrive, Urticaria, Congenital nonbullous ichthyosiform erythroderma, Hypernatremic deh... |
OMIM:256500 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Erythema, Cutaneous photosensitivity, Edema, Pruritus |
ORPHA:79278 |
Pemphigus Foliaceus |
|
Pustule, Erythema, Acantholysis, Crusting erythematous dermatitis, Pruritus, Scaling skin, Erythr... |
ORPHA:79481 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Fragile skin, Palmoplantar hyperkeratosis, Cutaneous photosensitivity, Crusting erythem... |
ORPHA:158673 |
Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
Hyperkeratosis Lenticularis Perstans |
|
Skin ulcer, Pruritus, Hyperkeratosis lenticularis perstans |
ORPHA:409 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Palmoplantar hyperkeratosis, Hy... |
ORPHA:79395 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis |
OMIM:618339 |
Angioma Serpiginosum |
|
Vascular skin abnormality, Erythema |
ORPHA:95429 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Recurrent urinary tract infections, Erythema, Hyperkeratosis, Recurrent infections, Pr... |
ORPHA:1334 |
Dermatitis Herpetiformis |
|
Urticaria, Eczema, Erythema, Pruritus, Edema, Skin vesicle |
ORPHA:1656 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration, Severe failure to thrive |
OMIM:601410 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Dry skin, Hyperkeratosis, Scali... |
OMIM:612281 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Acantholysis, Hyperkeratosis, Erythema |
ORPHA:2841 |
Prolidase Deficiency |
|
Erythema, Dry skin, Hyperkeratosis, Cutaneous photosensitivity, Crusting erythematous dermatitis,... |
ORPHA:742 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Facial erythema, Bruising susceptibility |
OMIM:143850 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Erythema, Angioedema, Laryngeal edema |
ORPHA:100057 |
Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Dehydration |
OMIM:614265 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Folliculitis, Dry skin, Follicular hyperkeratosis, Facial erythema, Palmoplantar keratoderma |
OMIM:308800 |
Lymphatic Malformation 12 |
|
Recurrent upper and lower respiratory tract infections, Nonimmune hydrops fetalis, Death in adole... |
OMIM:620014 |
Skin Fragility-Woolly Hair Syndrome |
|
Failure to thrive, Palmoplantar erythema, Palmoplantar scaling skin, Fragile skin, Palmoplantar h... |
OMIM:607655 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Hyperkeratosis, Scaling skin, Pruritus, Parakeratosis |
ORPHA:90368 |
Ichthyosis Prematurity Syndrome |
|
Dermatographic urticaria, Follicular hyperkeratosis, Polyhydramnios, Pruritus, Erythroderma, Gene... |
OMIM:608649 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Epidermal hyperkeratosis, Palmoplantar keratoderma, Plantar hyperkeratosis, Palmoplantar erythema |
OMIM:104100 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Scaling skin, Psoriasiform dermatitis |
OMIM:602723 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
Recessive X-Linked Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Dry skin |
ORPHA:461 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration, Death in infancy |
OMIM:251850 |
Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma |
OMIM:609180 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Congenital nonbullous ichthyosiform erythroderma, Erythema, Hyperkeratosis, Palmoplantar keratode... |
OMIM:242100 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Erythema, Pruritus |
OMIM:254400 |
Sydenham Chorea |
|
Recurrent streptococcus pneumoniae infections, Erythema |
ORPHA:306731 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Psoriasis 14, Pustular |
|
Erythema, Parakeratosis, Pustule, Psoriasiform dermatitis |
OMIM:614204 |
Necrobiosis Lipoidica |
|
Telangiectasia of the skin, Inflammatory abnormality of the skin, Erythema, Fragile skin, Skin ulcer |
ORPHA:542592 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Cutis laxa, Eczema, Dry skin, Hyperkeratosis, Ichthyosis, Dysphagia |
OMIM:612379 |
Erythema Of Acral Regions |
|
Erythema |
OMIM:227000 |
Epidermolytic Palmoplantar Keratoderma |
|
Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Epiderma... |
ORPHA:2199 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis, Pruritus |
ORPHA:254478 |
Keratolytic Winter Erythema |
|
Erythema |
OMIM:148370 |
Meige Disease |
|
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent... |
ORPHA:90186 |
Autosomal Agammaglobulinemia |
|
Failure to thrive, Skin rash, Recurrent skin infections, Dehydration, Sepsis, Meningitis, Recurre... |
ORPHA:33110 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema |
ORPHA:90157 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia, Failure to thrive, Dehydration |
OMIM:618958 |
Erythema Palmare Hereditarium |
|
Erythema |
OMIM:133000 |
Benign Chronic Pemphigus |
|
Erythema |
OMIM:169600 |
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema |
|
Erythema migrans |
OMIM:609352 |
Annular Erythema |
|
Erythema |
OMIM:106500 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, White scaling skin, Erythroderm... |
OMIM:604777 |
Central Diabetes Insipidus |
|
Dehydration, Failure to thrive, Polydipsia, Weight loss |
ORPHA:178029 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Erythroderma, Palmoplantar keratoderma, ... |
OMIM:602540 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma, Generalized hyperkeratosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Dehydration, Small for gestational age |
ORPHA:99886 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Moynahan Syndrome |
|
Cachexia, Hyperkeratosis |
ORPHA:2574 |
Rare Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Urticaria, Deep dermal perivascular inflammatory infiltrate, Vascular skin ab... |
ORPHA:535 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Recurrent upper and lower respiratory tract infections, Pustule, Recurrent tonsillitis, Dehydrati... |
ORPHA:171876 |
Peeling Skin Syndrome 4 |
|
Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin, Palmoplantar keratoderma |
OMIM:607936 |
Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Erythema |
OMIM:194400 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Pustule, Skin rash, Cutis marmorata, Erythema, Pustular rash, Recurrent infect... |
OMIM:615934 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Vascular skin abnormality, Recurrent bacterial infections, H... |
ORPHA:182 |
Keratosis Pilaris Atrophicans |
|
Erythema |
OMIM:604093 |
Porokeratosis |
|
Cutaneous photosensitivity, Hyperkeratosis, Pruritus |
ORPHA:79358 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Inflammatory abnormality of the skin, Dry skin, Hyperkeratosis, Ichthyosis, De... |
OMIM:610768 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perioral erythema, Failure to thrive, Pustule, Perianal erythema, Erythroderma |
OMIM:614328 |
Pityriasis Rubra Pilaris |
|
Pustule, Eczema, Subungual hyperkeratosis, Ichthyosis, Pruritus, Erythroderma, Palmoplantar kerat... |
ORPHA:2897 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Lymphedema |
OMIM:615907 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Congenital nonbullous ichthyosiform erythroderma, Linear arrays of macular hyperkeratoses in flex... |
OMIM:601952 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Dysphagia, Hyperkeratosis |
OMIM:616029 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Darier Disease |
|
Acrokeratosis, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Pruritus, Skin vesic... |
ORPHA:218 |
Bathing Suit Ichthyosis |
|
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis, Scalin... |
ORPHA:100976 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Urticaria, Congenital exfoliative erythroderma, Dry skin, Ichthyosis, Death in... |
ORPHA:1954 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Pruritus |
ORPHA:89843 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Erythema, Pruritus |
ORPHA:79099 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Lipoid Proteinosis |
|
Pustule, Hyperkeratosis, Acne, Dysphagia, Recurrent respiratory infections, Thickened skin |
ORPHA:530 |
Olmsted Syndrome 2 |
|
Palmoplantar hyperkeratosis, Perioral hyperkeratosis, Hyperkeratosis, Pruritus, Palmoplantar kera... |
OMIM:619208 |
Granulomatous Slack Skin |
|
Redundant skin, Erythema, Cutis laxa |
ORPHA:33111 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:289504 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Pustule, Psoriasiform lesion, Superficial dermal perivascular inflammatory infiltrate, Scaling sk... |
ORPHA:284426 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Lack of faci... |
ORPHA:90156 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:28 |
Lichen Planopilaris |
|
Skin ulcer, Hyperkeratosis, Pruritus |
ORPHA:525 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Dehydration, Death in childhood, Recurrent pneumonia |
OMIM:214150 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Failure to thrive, Dehydration, Recurrent respiratory infections, Hyperaldosteronism |
OMIM:264350 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin |
OMIM:247100 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Ectodermal dysplasia, Congenital bullous ichthyosiform erythroderma, Fo... |
OMIM:613576 |
Familial Renal Glucosuria |
|
Dehydration, Recurrent urinary tract infections |
ORPHA:69076 |
Ramon Syndrome |
|
Telangiectasia of the skin, Hyperkeratosis, Failure to thrive |
ORPHA:3019 |
Pemphigus Vulgaris |
|
Urticaria, Acantholysis, Recurrent infections, Weight loss, Recurrent cutaneous abscess formation |
ORPHA:704 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Facial erythema, Palmoplantar keratoderma, Folliculitis |
OMIM:612843 |
Dowling-Degos Disease |
|
Acne inversa, Generalized abnormality of skin, Hyperkeratosis, Pruritus, Hyperkeratotic papule, S... |
ORPHA:79145 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis, Recurrent otitis media |
OMIM:618625 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Erythema, Angioedema, Ecchymosis, Edema |
ORPHA:449285 |
Noonan Syndrome 8 |
|
Failure to thrive, Palmoplantar cutis laxa, Eczema, Large for gestational age, Polyhydramnios, Hy... |
OMIM:615355 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Dehydration, Increased circulating 18-hydroxycortisone level, Increased circul... |
OMIM:610600 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Flushing, Eczematoid dermatitis, Redundant skin, Erythema, Palmoplantar hyperkeratosis, Seborrhei... |
OMIM:259100 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:300918 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Follicular hyperkeratosis |
OMIM:618546 |
Irida Syndrome |
|
Pallor, Ichthyosis, Hyperkeratosis |
ORPHA:209981 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia of the skin, Telangiectasia, Hyperkeratosis, Lymphedema |
ORPHA:79279 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Pruritus |
OMIM:618084 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Failure to thrive, Small for gestational age, Dehydration, Ichthyosis, Death in infancy, Oligohyd... |
OMIM:208085 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Cutis laxa, Dry skin, Generalized hyperkeratosis, Scaling skin, Generalized ichthyosis |
ORPHA:2269 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Erythroderma, H... |
OMIM:615023 |
Odontoonychodermal Dysplasia |
|
Orthokeratosis, Palmoplantar erythema, Plantar hyperkeratosis, Erythema, Dry skin, Palmoplantar h... |
OMIM:257980 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Steatorrhea, Dehydration, Sepsis, Polyphagia, Weight loss |
ORPHA:95427 |
Adult-Onset Still Disease |
|
Joint swelling, Skin rash, Erythema, Meningitis, Recurrent pharyngitis, Pruritus |
ORPHA:829 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
Immunodeficiency 23 |
|
Failure to thrive, Vasculitis in the skin, Eczema, Erythema, Severe varicella zoster infection, R... |
OMIM:615816 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Hyperkeratosis, Parakeratosis, Hypergranulosis |
OMIM:604117 |
Complex Regional Pain Syndrome |
|
Edema of the upper limbs, Pedal edema, Erythema, Dry skin |
ORPHA:83452 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Skin ulcer, Palmoplantar keratoderma, Erythema, Thickened skin |
ORPHA:659 |
Polyarteritis Nodosa |
|
Skin ulcer, Cutis marmorata, Weight loss, Erythema |
ORPHA:767 |
Glutamine Deficiency, Congenital |
|
Erythema, Neonatal death, Recurrent respiratory infections |
OMIM:610015 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Orthokeratosis, Recurrent skin infections, Acantholysis, Erythroderma, Palmoplantar keratoderma, ... |
OMIM:615508 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration, Steatorrhea |
OMIM:615237 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Palmar hyperkeratosis, Plantar hyperkeratosis, Cutaneous photosensitivity, Hyperkeratotic papule,... |
ORPHA:79397 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis, Erythr... |
OMIM:242300 |
Rosaï-Dorfman Disease |
|
Erythema |
ORPHA:158014 |
Olmsted Syndrome 1 |
|
Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis, Pruritus |
OMIM:614594 |
Immunoglobulin A Vasculitis |
|
Urticaria, Vascular skin abnormality, Pustule, Skin rash, Bruising susceptibility, Erythema, Angi... |
ORPHA:761 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Weight loss, Edema |
ORPHA:103910 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Dehydration, Weight loss |
OMIM:143880 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Bruising susceptibility, Follicular hyperkeratosis |
ORPHA:300179 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Dehydration, Failure to thrive, Death in childhood, Death in adolescence |
OMIM:560000 |
Keratoderma Hereditarium Mutilans |
|
Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis |
ORPHA:494 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Dry skin, Recurrent respiratory infections, Follicular hyperkeratosis |
ORPHA:486815 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Skin rash, Erythema, Angioedema, Infectious encephalitis, Erythroderma, Weight loss |
ORPHA:139402 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration, Neonatal death |
OMIM:602199 |
Juvenile Dermatomyositis |
|
Telangiectasia of the skin, Mucosal telangiectasiae, Skin rash, Palpebral edema, Erythema, Dry sk... |
ORPHA:93672 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Erysipelas, Hyperkeratosis, Pedal edema, Lymphedema |
ORPHA:79452 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of ... |
OMIM:148700 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Dehydration, Elevated serum 11-deoxycortisol, Abnormal circulating corticoster... |
ORPHA:556030 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Acanthosis nigricans, Xerostomia, Dry skin, Hyperkeratosis, Ichthyosis, Parakeratosis |
OMIM:618527 |
Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Palmoplantar keratoderma, Hyperkeratosis, Scaling skin |
OMIM:616295 |
Poikiloderma With Neutropenia |
|
Recurrent bronchopulmonary infections, Skin rash, Plantar hyperkeratosis, Recurrent sinusitis, Hy... |
OMIM:604173 |
Subcorneal Pustular Dermatosis |
|
Erythema, Pustule, Pruritus |
ORPHA:48377 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Recurrent skin infections, Sepsis, Generalized abnormality of skin, Erythema, ... |
ORPHA:79396 |
Pityriasis Rubra Pilaris |
|
Orthokeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis |
OMIM:173200 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Dehydration |
OMIM:602722 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Gaucher Disease, Perinatal Lethal |
|
Congenital nonbullous ichthyosiform erythroderma, Petechiae, Decreased body weight, Nonimmune hyd... |
OMIM:608013 |
Fixed Drug Eruption |
|
Generalized abnormality of skin, Erythema, Crusting erythematous dermatitis |
ORPHA:293812 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Dry skin, Hyperkeratosis, Death in infancy, Recurrent infections, Peau d'orange |
OMIM:614576 |
Xeroderma Pigmentosum, Complementation Group F |
|
Decreased body weight, Cutaneous photosensitivity, Erythema |
OMIM:278760 |
Pearson Marrow-Pancreas Syndrome |
|
Failure to thrive, Steatorrhea, Pallor, Small for gestational age, Death in childhood, Hydrops fe... |
OMIM:557000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Dehydration |
ORPHA:79312 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Urticaria, Failure to thrive, Erythema, Pruritus, Skin vesicle, Thick... |
ORPHA:2135 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss, Erythema, Edema |
ORPHA:33577 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Bruising susceptibility, Poor wound healing, Facial erythema, Purpura, Striae ... |
OMIM:219090 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Dehydration, Hyperaldosteronism |
OMIM:177735 |
Toxic Epidermal Necrolysis |
|
Polydipsia, Sepsis, Erythema, Acantholysis, Dysphagia, Skin ulcer, Weight loss, Recurrent respira... |
ORPHA:537 |
Neutrophilic Dermatosis, Acute Febrile |
|
Cystic acne, Acne inversa, Erythema, Pyoderma gangrenosum |
OMIM:608068 |
Trichothiodystrophy 1, Photosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Small for gestational age, Dry skin, Hyperkerat... |
OMIM:601675 |
Porokeratosis 7, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175800 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis |
OMIM:148500 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251120 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Urticaria, Pustule, Eczema, Xerostomia, Erythema, Palmoplantar hyperk... |
ORPHA:2907 |
Acrokeratosis Verruciformis Of Hopf |
|
Hyperkeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis |
ORPHA:79151 |
Beta-Ketothiolase Deficiency |
|
Oral aversion, Pallor, Dehydration, Edema, Weight loss |
ORPHA:134 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Pustule, Generalized abnormality of skin, Erythema, Dry skin, Skin ulcer, Weig... |
ORPHA:37 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Skin ulcer, Poor wound healing, Hyperkeratosis, Penetrating foot ulcers |
ORPHA:36386 |
Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Acne inversa, Orthokeratosis, Hyperkeratosis |
OMIM:617337 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Erythema, Angioedema, Laryngeal edema, Periorbital edema |
OMIM:106100 |
Propionic Acidemia |
|
Dehydration, Failure to thrive, Eczema |
OMIM:606054 |
Cystinosis |
|
Dehydration, Failure to thrive, Polydipsia |
ORPHA:213 |
Tempi Syndrome |
|
Facial erythema, Telangiectasia, Transudative pleural effusion, Ascites |
ORPHA:284227 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent gastroenteritis, Recurrent bacterial skin infections, Pustule, Generalized abnormality ... |
ORPHA:294023 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration, Failure to thrive |
OMIM:606824 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Dehydration |
OMIM:203400 |
Leopard Syndrome 3 |
|
Epidermal hyperkeratosis, Hyperkeratosis, Dry skin |
OMIM:613707 |
Renal Hypoplasia |
|
Dehydration, Polydipsia, Recurrent urinary tract infections, Small for gestational age |
ORPHA:93101 |
Porokeratosis 3, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175900 |
Sunct Syndrome |
|
Facial erythema, Flushing, Palpebral edema, Facial edema |
ORPHA:57145 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis |
OMIM:148600 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Pruritus |
OMIM:602400 |
Stevens-Johnson Syndrome |
|
Sepsis, Erythema, Acantholysis, Dysphagia, Weight loss, Recurrent respiratory infections |
ORPHA:36426 |
Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Recurrent candida infections, Perioral erythema, Failure to thrive, Dry skin, Perianal erythema |
OMIM:201100 |
Wolcott-Rallison Syndrome |
|
Decreased body weight, Dehydration, Recurrent infections, Ascites, Jaundice |
ORPHA:1667 |
Costello Syndrome |
|
Lack of skin elasticity, Redundant skin, Acanthosis nigricans, Polyhydramnios, Hyperkeratosis, Fa... |
ORPHA:3071 |
Chikungunya |
|
Joint swelling, Petechiae, Facial edema, Skin rash, Maculopapular exanthema, Erythema, Cutaneous ... |
ORPHA:324625 |
Fountain Syndrome |
|
Facial edema, Cutis marmorata, Erythema |
ORPHA:3219 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Erythema, Chilblains, Purpura, Prolonged neonatal jaundice, Acrocyanosis |
OMIM:225750 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Recurrent sinopulmonary infections, Erythema |
OMIM:614878 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Dehydration, Pruritus, Prolonged neonatal jaundice, Weight loss |
OMIM:619377 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor, Cerebral edema |
ORPHA:439218 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Hyperkeratotic papule, Fragile skin, Skin vesicle, Pruritus |
ORPHA:79410 |
Neonatal Lupus Erythematosus |
|
Skin rash, Maculopapular exanthema, Hyperkeratosis, Cutaneous photosensitivity, Malar rash, Parak... |
ORPHA:398124 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration, Failure to thrive, Hyperaldosteronism |
OMIM:214700 |
Familial Keratoacanthoma |
|
Skin ulcer, Hyperkeratosis |
ORPHA:493 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Death in childhood, Erythema, Neonatal death, Ichthyosis, Death in infancy |
OMIM:609313 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Orthokeratosis, Congenital ichthyosiform erythroderma, Erythema, Hyperkeratosis, Stillbirth, Para... |
OMIM:308050 |
Xeroderma Pigmentosum |
|
Telangiectasia of the skin, Failure to thrive, Erythema, Conjunctival telangiectasia, Dry skin, H... |
ORPHA:910 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Dehydration, Weight loss, Steatorrhea |
ORPHA:92050 |
Popov-Chang syndrome |
|
Failure to thrive, Hyperkeratosis, Dry skin, Recurrent otitis media |
OMIM:618428 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Orthokeratosis, Dry skin, Ichthyosis, Jaundice, Parakeratosis |
OMIM:607626 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Failure to thrive, Dehydration |
OMIM:300200 |
Dermatomyositis |
|
Telangiectasia of the skin, Erythema, Dry skin, Cutaneous photosensitivity, Pruritus, Periorbital... |
ORPHA:221 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hidrotic ectodermal dysplasia, Hyperkeratosis |
ORPHA:1883 |
Corneodermatoosseous Syndrome |
|
Palmoplantar keratoderma, Erythema, Thickened skin |
ORPHA:3194 |
Mednik Syndrome |
|
Ichthyosis, Hyperkeratosis |
ORPHA:171851 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Joint swelling, Pustule, Skin rash, Hyperkeratosis, Failure to thrive in infancy |
OMIM:612852 |
Cardiofaciocutaneous Syndrome 3 |
|
Failure to thrive, Hyperkeratosis |
OMIM:615279 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Failure to thrive, Recurrent skin infections, Sepsis, Fragile skin, Follicular hyperkeratosis, Sc... |
ORPHA:158668 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
Pilodental Dysplasia With Refractive Errors |
|
Ectodermal dysplasia, Follicular hyperkeratosis |
OMIM:262020 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Skin rash, Erythema, Hyperkeratosis, Infectious encephalitis, Skin ulcer |
ORPHA:464 |
Juvenile Idiopathic Arthritis |
|
Joint swelling, Skin rash, Generalized hyperkeratosis, Pericardial effusion, Psoriasiform dermati... |
ORPHA:92 |
Hidrotic Ectodermal Dysplasia |
|
Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Hyperkeratotic papule, Cobblestone-like hy... |
ORPHA:189 |
Microscopic Polyangiitis |
|
Subcutaneous hemorrhage, Skin rash, Cutis marmorata, Erythema, Skin ulcer |
ORPHA:727 |
Oral Erosive Lichen |
|
Erythema, Dry skin |
ORPHA:31142 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:35710 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251000 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Facial telangiectasia in butterfly midface distribution, Pal... |
OMIM:137940 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hypernatremic dehydration |
OMIM:143860 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutis marmorata, Hyperkeratosis, Recurrent pneumonia, Failure to thrive in infancy |
OMIM:301220 |
Kanzaki Disease |
|
Dry skin, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkeratosis, Angiokeratoma co... |
OMIM:609242 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Purpura, Erythema, Acrocyanosis |
ORPHA:343 |
Mycetoma |
|
Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections, Recurrent fungal infections... |
ORPHA:2583 |
Autosomal Dominant Cerebellar Ataxia |
|
Erythema, Hyperkeratosis, Pseudobulbar paralysis |
ORPHA:99 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Death in childhood, Erythema, Skin rash, Cerebral edema |
OMIM:618321 |
Hypohidrotic Ectodermal Dysplasia |
|
Failure to thrive, Eczema, Xerostomia, Dry skin, Hyperkeratosis |
ORPHA:238468 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Erythema, Hyperkeratosis, Cutaneous photosensitivity, Dysphagia, Palmo... |
ORPHA:2908 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Steatorrhea, Cachexia, Dehydration, Hypertriglyceridemia, Pruritus, Hyperchole... |
ORPHA:275761 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkeratosis... |
ORPHA:79280 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Erythema, Edema |
OMIM:619183 |
Syndromic Recessive X-Linked Ichthyosis |
|
Ichthyosis, Hyperkeratosis |
ORPHA:281090 |
Rheumatic Fever |
|
Pallor, Erythema, Recurrent pharyngitis |
ORPHA:3099 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypertonic dehydration, Polydipsia, Failure to thrive |
OMIM:125800 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis, Recurrent respiratory infections |
ORPHA:1839 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypertonic dehydration, Polydipsia, Failure to thrive |
OMIM:304800 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Dehydration, Oligohydramnios, Neonatal death |
OMIM:263200 |
Microvillus Inclusion Disease |
|
Dehydration, Pruritus |
ORPHA:2290 |
Incontinentia Pigmenti |
|
Pallor, Maculopapular exanthema, Hyperkeratosis, Erythema |
OMIM:308300 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Palmoplantar keratoderma, Ectodermal dysplasia, Parakeratosis, Follicular hyperkeratosis |
OMIM:615225 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Skin ulcer, Hyperkeratosis, Recurrent respiratory infections |
ORPHA:1806 |
Vipoma |
|
Increased circulating cortisol level, Dehydration, Erythema, Subcutaneous lipoma, Weight loss, As... |
ORPHA:97282 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration, Recurrent pneumonia, Recurrent infections |
OMIM:616271 |
Shigellosis |
|
Urticaria, Dehydration, Sepsis, Purpura, Failure to thrive in infancy |
ORPHA:810 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Flushing, Pallor, Dehydration, Dysphagia, Oral-pharyngeal dysphagia |
ORPHA:2131 |
Werner Syndrome |
|
Slender build, Telangiectasia of the skin, Subcutaneous calcification, Miscarriage, Prematurely a... |
ORPHA:902 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Palmoplantar hyperkeratosis, Dry skin, Follicular hyperkeratosis |
OMIM:617388 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Sclerodactyly, Poor wound healing, Dry skin, Facial erythema, Scaling skin, Palmoplantar keratoderma |
ORPHA:1010 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Dehydration, Edema, Weight loss, Jaundice |
ORPHA:20 |
Rothmund-Thomson Syndrome Type 2 |
|
Facial edema, Small for gestational age, Plantar hyperkeratosis, Erythema, Facial erythema, Porok... |
ORPHA:221016 |
Donohue Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Recurrent infections, Severe failure to thrive |
OMIM:246200 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Dry skin, Follicular hyperkeratosis, Scaling skin, Erythroderma, Oligohydramnios, Ectodermal dysp... |
OMIM:308205 |
Riddle Syndrome |
|
Erythema, Conjunctival telangiectasia, Recurrent sinusitis, Weight loss, Scaling skin, Recurrent ... |
ORPHA:420741 |
Kikuchi-Fujimoto Disease |
|
Pustule, Skin rash, Vasculitis in the skin, Palpebral edema, Erythema, Meningitis, Cutaneous phot... |
ORPHA:50918 |
Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
Kid Syndrome |
|
Recurrent candida infections, Failure to thrive, Recurrent bacterial skin infections, Progeroid f... |
ORPHA:477 |
Lig4 Syndrome |
|
Telangiectasia of the skin, Cutaneous photosensitivity, Erythema |
ORPHA:99812 |
Sialidosis Type 1 |
|
Vascular skin abnormality, Hyperkeratosis |
ORPHA:812 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
Ifap Syndrome 2 |
|
Ichthyosis follicularis, Perioral erythema |
OMIM:619016 |
Chronic Graft Versus Host Disease |
|
Morphea, Poor wound healing, Xerostomia, Erythema, Skin vesicle, Recurrent infections, Pleural ef... |
ORPHA:99921 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Follicular hyperkeratosis |
OMIM:613102 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Dehydration |
OMIM:251110 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Cholera |
|
Palmoplantar cutis laxa, Dehydration, Miscarriage |
ORPHA:173 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Facial erythema |
OMIM:618307 |
Glucagonoma |
|
Skin rash, Steatorrhea, Increased circulating cortisol level, Pruritus, Subcutaneous lipoma, Necr... |
ORPHA:97280 |
Pachyonychia Congenita 1 |
|
Palmoplantar hyperkeratosis, Follicular hyperkeratosis |
OMIM:167200 |
Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Dehydration |
OMIM:251100 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Failure to thrive, Ichthyosis, Pruritus, Erythroderma, Palmoplantar keratoderma |
ORPHA:79394 |
Bone Marrow Failure Syndrome 3 |
|
Failure to thrive, Eczema, Hyperkeratosis, Recurrent infections |
OMIM:617052 |
Rothmund-Thomson Syndrome Type 1 |
|
Facial edema, Small for gestational age, Plantar hyperkeratosis, Facial erythema, Porokeratosis, ... |
ORPHA:221008 |
Pachyonychia Congenita |
|
Failure to thrive, Palmar hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural are... |
ORPHA:2309 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Failure to thrive, Progeroid facial appearance, Acanthosis nigricans, Recurrent upper respiratory... |
OMIM:256040 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Slender build, Failure to thrive, Recurrent lower respiratory tract infections, Follicular hyperk... |
OMIM:254090 |
Oligomeganephronia |
|
Dehydration, Polydipsia, Small for gestational age |
ORPHA:2260 |
Chime Syndrome |
|
Skin ulcer, Ichthyosis, Hyperkeratosis, Erythema |
ORPHA:3474 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Bruising susceptibility, Skin rash, Erythema, Erysipelas, Recurrent pharyngitis, Periorbital edema |
ORPHA:32960 |
Fucosidosis |
|
Failure to thrive, Acrocyanosis, Vascular skin abnormality, Generalized hyperkeratosis |
ORPHA:349 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Failure to thrive, Urticaria, Eczema, Recurrent bacterial infections, Erythema, Hyperkeratosis, I... |
ORPHA:2273 |
Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Death in infancy |
ORPHA:163966 |
Warburg-Cinotti Syndrome |
|
Joint swelling, Poor wound healing, Erythema, Follicular hyperkeratosis |
OMIM:618175 |
Familial Mediterranean Fever |
|
Skin rash, Erythema, Erysipelas, Meningitis, Pedal edema, Ascites |
ORPHA:342 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Reactive Arthritis |
|
Joint swelling, Pustule, Recurrent urinary tract infections, Hyperkeratosis, Weight loss |
ORPHA:29207 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Failure to thrive, Dehydration |
ORPHA:90791 |
Cardiofaciocutaneous Syndrome |
|
Excessive wrinkled skin, Redundant skin, Dry skin, Hyperkeratosis, Lymphedema, Ichthyosis, Palmop... |
ORPHA:1340 |
Pearson Syndrome |
|
Steatorrhea, Corneal stromal edema, Small for gestational age, Dehydration, Hydrops fetalis, Seve... |
ORPHA:699 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperkeratosis |
OMIM:601812 |
Familial Tumoral Calcinosis |
|
Erythema, Skin rash |
ORPHA:53715 |
Darier-White Disease |
|
Acantholysis, Acrokeratosis, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
Bloom Syndrome |
|
Facial telangiectasia in butterfly midface distribution, Small for gestational age, Recurrent upp... |
OMIM:210900 |
Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
Pachyonychia Congenita 3 |
|
Palmar hyperkeratosis, Plantar hyperkeratosis, Follicular hyperkeratosis, Palmoplantar keratoderm... |
OMIM:615726 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis |
ORPHA:1809 |
Localized Scleroderma |
|
Erythema, Thickened skin |
ORPHA:90289 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Hyperkeratosis, Ichthyosis |
OMIM:148210 |
Behcet Syndrome |
|
Erythema, Erythema nodosum |
OMIM:109650 |
Nephrogenic Diabetes Insipidus |
|
Polyhydramnios, Polydipsia, Failure to thrive, Hypernatremic dehydration |
ORPHA:223 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Failure to thrive, Recurrent skin infections, Pyoderma, Dehydration, Sepsis, Recurrent urinary tr... |
ORPHA:79404 |
Naxos Disease |
|
Diffuse palmoplantar hyperkeratosis, Subungual hyperkeratosis, Fragile skin, Acantholysis, Hyperk... |
OMIM:601214 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Dehydration, Hydrops fetalis, Jaundice |
ORPHA:79282 |
Infantile Nephropathic Cystinosis |
|
Dehydration, Failure to thrive, Polydipsia |
ORPHA:411629 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Sclerodactyly, Hypertriglyceridemia, Hypercholesterolemia, Palmoplantar keratoderma, Orthokeratot... |
OMIM:610644 |
Microsporidiosis |
|
Cachexia, Dehydration, Sepsis, Brain abscess, Bronchiolitis, Infectious encephalitis, Weight loss |
ORPHA:2552 |
Oculocerebrorenal Syndrome Of Lowe |
|
Joint swelling, Failure to thrive, Dehydration, Death in infancy, Hypercholesterolemia, Skin ulce... |
ORPHA:534 |
Bartter Syndrome Type 4 |
|
Failure to thrive, Severe failure to thrive, Small for gestational age, Dehydration, Polyhydramni... |
ORPHA:89938 |
Blau Syndrome |
|
Joint swelling, Skin rash, Xerostomia, Erythema, Dry skin, Ichthyosis, Skin ulcer, Erythema nodosum |
ORPHA:90340 |
Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:28378 |
Bartter Syndrome, Type 3 |
|
Dehydration, Hyperaldosteronism |
OMIM:607364 |
Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis, Dry skin, Ectodermal dysplasia |
OMIM:601701 |
Neuroleptic Malignant Syndrome |
|
Dysphagia, Dehydration, Sepsis |
ORPHA:94093 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Dehydration, Acrocyanosis |
OMIM:259900 |
Ramon Syndrome |
|
Decreased body weight, Telangiectasia, Hyperkeratosis, Angiokeratoma |
OMIM:266270 |
Cystic Fibrosis |
|
Failure to thrive, Recurrent bronchopulmonary infections, Steatorrhea, Dehydration, Recurrent pne... |
OMIM:219700 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Failure to thrive, Eczema, Large for gestational age, Polyhydramnios, Hyperkeratosis, Ichthyosis |
OMIM:607721 |
Marburg Hemorrhagic Fever |
|
Petechiae, Skin rash, Bruising susceptibility, Maculopapular exanthema, Dehydration, Severe infec... |
ORPHA:99826 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
Noonan Syndrome 10 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Increased nuchal translucency, Pleural effusion |
OMIM:616564 |
Melas |
|
Failure to thrive, Erythema |
ORPHA:550 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Ichthyosis, Hyperkeratosis |
ORPHA:1005 |
Distal Renal Tubular Acidosis |
|
Dehydration, Failure to thrive, Polydipsia |
ORPHA:18 |
Cardiofaciocutaneous Syndrome 1 |
|
Failure to thrive, Atopic dermatitis, Polyhydramnios, Hyperkeratosis, Ichthyosis |
OMIM:115150 |
Bartter Syndrome, Type 2, Antenatal |
|
Failure to thrive, Polydipsia, Small for gestational age, Dehydration, Polyhydramnios, Hyperaldos... |
OMIM:241200 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Failure to thrive, Dehydration |
ORPHA:168558 |
Noonan Syndrome 2 |
|
Polyhydramnios, Palmoplantar cutis laxa, Hyperkeratosis, Increased nuchal translucency |
OMIM:605275 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Failure to thrive, Dehydration |
ORPHA:289548 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:99885 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Dehydration |
ORPHA:3008 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Joint swelling, Urticaria, Failure to thrive, Cutis laxa, At... |
OMIM:619503 |
Juvenile Nephropathic Cystinosis |
|
Dehydration, Failure to thrive, Polydipsia |
ORPHA:411634 |
Zollinger-Ellison Syndrome |
|
Erythema, Weight loss, Jaundice, Increased circulating cortisol level |
ORPHA:913 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Erythema |
ORPHA:2092 |
Cystinosis, Nephropathic |
|
Polydipsia, Dehydration, Dysphagia, Weight loss, Failure to thrive in infancy, Oral-pharyngeal dy... |
OMIM:219800 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Opportunistic infection, Hyperkeratosis, Lymphedema, Opportu... |
ORPHA:2035 |
Hermansky-Pudlak Syndrome |
|
Weight loss, Hyperkeratosis, Bruising susceptibility, Thickened skin |
ORPHA:79430 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Miscarriage, Decreased circulating cortisol level, Dehydration, Acne, Weight loss |
ORPHA:90794 |
Bartter Syndrome, Type 1, Antenatal |
|
Failure to thrive, Small for gestational age, Dehydration, Polyhydramnios, Hyperaldosteronism |
OMIM:601678 |
Kawasaki Disease |
|
Skin rash, Palmoplantar erythema, Meningitis, Recurrent pharyngitis, Edema, Jaundice |
ORPHA:2331 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Failure to thrive, Dry skin, Hyperkeratosis, Prolonged neonatal jaundice, Oligohydramnios, Stillb... |
OMIM:210710 |
Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Polyhydramnios, Bruising susceptibility, Cutis laxa, Follicular hyperkeratosis |
OMIM:614557 |
Scorpion Envenomation |
|
Pulmonary edema, Purpura, Erythema, Edema |
ORPHA:466677 |
Fabry Disease |
|
Telangiectasia of the skin, Hyperlipidemia, Mucosal telangiectasiae, Angiokeratoma, Conjunctival ... |
ORPHA:324 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Erythema |
OMIM:614653 |
Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Orthokeratosis, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Palmoplantar keratoderma, Hyp... |
ORPHA:79501 |
Proximal Renal Tubular Acidosis |
|
Dehydration, Failure to thrive, Polydipsia |
ORPHA:47159 |
Urachal Cyst |
|
Severe infection, Erythema |
ORPHA:488 |
Alacrima, Achalasia, And Mental Retardation Syndrome |
|
Dysphagia, Hyperkeratosis |
OMIM:615510 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Bruising susceptibility, Excessive wrinkled skin, Palmoplantar cutis laxa, Poor wound healing, Fo... |
OMIM:225400 |
Multiple Endocrine Neoplasia Type 4 |
|
Subcutaneous lipoma, Erythema, Increased circulating cortisol level |
ORPHA:276152 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Decreased body weight, Acanthosis nigrica... |
ORPHA:508 |
Atypical Werner Syndrome |
|
Telangiectasia of the skin, Subcutaneous calcification, Prematurely aged appearance, Progeroid fa... |
ORPHA:79474 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Hyperparakeratosis, Seborrheic dermatitis |
ORPHA:276280 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Dehydration, Oligohydramnios |
ORPHA:96191 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Slender build, Small for gestational age, Eczema, Recurrent urinary tract infections, Hyperkerato... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Slender build, Small for gestational age, Eczema, Recurrent urinary tract infections, Hyperkerato... |
ORPHA:363958 |
Multiple Endocrine Neoplasia Type 1 |
|
Weight loss, Dehydration, Primary hypercortisolism, Increased circulating cortisol level |
ORPHA:652 |
Eec Syndrome |
|
Xerostomia, Hyperkeratosis, Dry skin |
ORPHA:1896 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration, Weight loss |
ORPHA:3337 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Failure to thrive, Erythema |
ORPHA:2556 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Neonatal death, Polyhydramnios, Scaling skin, Epidermal hype... |
OMIM:275210 |
De Sanctis-Cacchione Syndrome |
|
Telangiectasia, Cutaneous photosensitivity, Parakeratosis |
OMIM:278800 |
Relapsing Polychondritis |
|
Purpura, Erythema |
ORPHA:728 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Erythema, Fragile skin, Recurrent respiratory infections |
OMIM:614748 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema |
OMIM:118650 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Failure to thrive, Eczema, Superficial dermal perivascular inflammatory infiltrate, Pruritus, Seb... |
ORPHA:83617 |
Leprosy |
|
Hyperkeratosis, Penetrating foot ulcers, Acral ulceration |
ORPHA:548 |
6Q Terminal Deletion Syndrome |
|
Failure to thrive, Hyperkeratosis, Obesity |
ORPHA:75857 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Xerostomia, Hyperkeratosis, Recurrent respiratory infections, Ectodermal dysplasia |
OMIM:129900 |
Cowden Syndrome |
|
Palmoplantar keratoderma, Failure to thrive, Mucosal telangiectasiae, Generalized hyperkeratosis |
ORPHA:201 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Fragile skin, Poor wound healing, Bruising susceptibility, Follicular hyperkeratosis |
ORPHA:536545 |
Restrictive Dermopathy |
|
Polyhydramnios, Dermal translucency, Generalized hyperkeratosis, Scaling skin, Epidermal hyperker... |
ORPHA:1662 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Xerostomia, Hyperkeratosis, Ectodermal dysplasia |
OMIM:604292 |
Proteus Syndrome |
|
Vascular skin abnormality, Cachexia, Lymphedema, Generalized hyperkeratosis, Recurrent infections... |
ORPHA:744 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Epidermal thickening, Orthokeratotic hyperkeratosis, Thickened skin |
ORPHA:73223 |