| Candidiasis, Familial, 6 |
|
Chronic mucocutaneous candidiasis |
OMIM:613956 |
| Lymphoblastic Transformation, Intrinsic Defect In |
|
Chronic mucocutaneous candidiasis |
OMIM:247450 |
| Lymphoblastic Transformation, Inhibition Of |
|
Chronic mucocutaneous candidiasis |
OMIM:247430 |
| Lymphokine Deficiency |
|
Chronic mucocutaneous candidiasis |
OMIM:247650 |
| Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation |
OMIM:613737 |
| Peeling Skin Syndrome 6 |
|
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus |
OMIM:618084 |
| Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
| Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Dry skin, Facial erythema, Follicular hyperkeratosis, Contact dermatitis, ... |
ORPHA:3406 |
| X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
|
Psoriasiform dermatitis |
ORPHA:3052 |
| Impaired Intellectual Development And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
| Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin |
OMIM:602723 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Ge... |
OMIM:612281 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Ichthyosis With Erythrokeratoderma |
|
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar h... |
OMIM:620507 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Congen... |
OMIM:604777 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Parakeratosis, Pal... |
ORPHA:64745 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Acquired Ichthyosis |
|
Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Hy... |
ORPHA:454 |
| Ichthyosis Vulgaris |
|
Ichthyosis, Dry skin, Eczematoid dermatitis |
OMIM:146700 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,... |
ORPHA:79395 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperkeratosis, Scal... |
OMIM:620148 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis |
ORPHA:737 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Erythema, Orthokeratosis, Hyperparakeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Scaling sk... |
OMIM:607602 |
| Hypotrichosis Simplex Of The Scalp |
|
Allergic rhinitis, Atopic dermatitis, Parakeratosis, Scaling skin, Pruritus, Hyperkeratosis |
ORPHA:90368 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Hyperkeratosis |
OMIM:613943 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu... |
OMIM:617571 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Scaling skin, Hyperkeratosis |
OMIM:607936 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat... |
ORPHA:530838 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... |
OMIM:148730 |
| Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat... |
OMIM:604117 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis |
OMIM:617574 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... |
OMIM:613000 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Skin vesicle, Erythema migrans |
ORPHA:158681 |
| Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Excessive skin wrinkl... |
ORPHA:498359 |
| Psoriasis 1, Susceptibility To |
|
Psoriasiform dermatitis, Arthritis |
OMIM:177900 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Hyperkeratosis |
OMIM:617525 |
| Dermatitis, Atopic |
|
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Ichthyosis, Facial... |
OMIM:603165 |
| Bazex Syndrome |
|
Palmoplantar keratoderma, Parakeratosis, Acanthosis nigricans, Scaling skin, Pruritus, Hyperkerat... |
ORPHA:166113 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Acne inversa, Chronic furunculosis, Follicular hyperkeratosis, Perifolliculitis, Recurrent cutane... |
OMIM:613736 |
| Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Pruritus, Erythema |
ORPHA:83453 |
| Verrucous Hemangioma |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin |
ORPHA:464318 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly |
OMIM:212360 |
| Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting er... |
ORPHA:79147 |
| Diffuse Palmoplantar Keratoderma, Bothnian Type |
|
Diffuse palmoplantar hyperkeratosis, Erythema, Pruritus, Skin ulcer |
ORPHA:2337 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis, Ichthyosis |
ORPHA:79503 |
| Bathing Suit Ichthyosis |
|
Thickened skin, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling ski... |
ORPHA:100976 |
| Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... |
OMIM:613953 |
| Pemphigus Foliaceus |
|
Erythema, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Skin vesicle, Eryth... |
ORPHA:79481 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hypergranulosis, Erythroderma, Hyperkeratosis, Congenital nonbullous ichthyosifor... |
OMIM:615023 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula... |
ORPHA:284426 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis |
OMIM:254400 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis |
OMIM:173200 |
| Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
| Classic Mycosis Fungoides |
|
Erythema, Eczematoid dermatitis, Skin ulcer, Dry skin, Skin rash, Pruritus, Hyperkeratosis |
ORPHA:2584 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Erythema, Palmoplantar keratoderma, Ichthyosis, Parakeratosis, Pruritus, Hyperkeratosis |
OMIM:615821 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle... |
OMIM:601952 |
| Psoriasis 14, Pustular |
|
Erythema, Psoriasiform dermatitis, Pustule, Parakeratosis, Oligoarthritis, Cholangitis |
OMIM:614204 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Erythroderma, Hyperkeratosis, Congenital bullou... |
ORPHA:312 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi... |
OMIM:614594 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz... |
OMIM:615024 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101850 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Parakeratosis, Palmopl... |
OMIM:300918 |
| Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... |
OMIM:620150 |
| Dermatoleukodystrophy |
|
Thickened skin, Hyperkeratosis |
ORPHA:1659 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Er... |
OMIM:617526 |
| Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin, Ichthyosis |
ORPHA:2271 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Malar rash, Skin rash, Prur... |
ORPHA:90280 |
| Infantile Digital Fibromatosis |
|
Parakeratosis, Hyperkeratosis |
ORPHA:199267 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:615598 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Psoriasiform dermatitis, Ichthyosis, E... |
OMIM:615508 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Er... |
OMIM:242300 |
| Mal De Meleda |
|
Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Superficial... |
ORPHA:87503 |
| Recessive X-Linked Ichthyosis |
|
Dry skin, Hyperkeratosis, Ichthyosis |
ORPHA:461 |
| Olmsted Syndrome 2 |
|
Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperke... |
OMIM:619208 |
| Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... |
ORPHA:499 |
| Cole Disease |
|
Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Punctate palmop... |
OMIM:615522 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer |
ORPHA:409 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Orthokeratosis, Hypergranulosis |
ORPHA:38 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Immunodeficiency 53 |
|
Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p... |
OMIM:617585 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Huriez Syndrome |
|
Dry skin, Palmoplantar keratoderma, Sclerodactyly, Lack of skin elasticity |
ORPHA:384 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... |
OMIM:618204 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Subungual hyperkeratosis, Acne inversa, Eczematoid dermatitis |
OMIM:617337 |
| Erythrokeratodermia Variabilis |
|
Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Skin rash, Hyperkeratosis |
ORPHA:317 |
| Congenital Lethal Erythroderma |
|
Ichthyosis, Dry skin, Congenital exfoliative erythroderma |
ORPHA:1954 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Orthokeratosis, Dry skin, Ichthyosis, Sclerosing cholangitis, Parakeratosis, Pruritus |
OMIM:607626 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Folliculitis, Palmoplantar keratoderma, Keratitis, Dry skin, Facial erythema, Follicular hyperker... |
OMIM:308800 |
| Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Elastosis Perforans Serpiginosa |
|
Crusting erythematous dermatitis, Hyperkeratotic papule, Cutis laxa |
ORPHA:79148 |
| Lamellar Ichthyosis |
|
Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Pruritus, Hyperkeratosis, Chronic ot... |
ORPHA:313 |
| Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Cheilitis, Dry skin, Angular cheilitis, Follicular hyperkeratosis, Punctate palmoplantar hyperker... |
OMIM:616295 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
| Sjögren-Larsson Syndrome |
|
Erythema, Dry skin, Ichthyosis, Inflammatory abnormality of the eye, Hyperkeratosis |
ORPHA:816 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Dry skin, Pruritus |
OMIM:617920 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Parakeratosis, Hyperkeratosis |
OMIM:618339 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis, Erythema |
ORPHA:79100 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma, Hyperkeratosis |
OMIM:136630 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Palmoplantar keratoderma, Eczematoid dermatitis, Dry skin, Pruritus, Blepharitis |
OMIM:618535 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
| C1Q Deficiency 3 |
|
Discoid lupus rash |
OMIM:620322 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Generalized hyperkeratosis, Dry skin, Cutis laxa, Scaling skin, Generalized ichthyosis |
ORPHA:2269 |
| Lichen Planus Pemphigoides |
|
Skin vesicle, Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis |
ORPHA:254478 |
| Parana Hard Skin Syndrome |
|
Thickened skin, Hyperkeratosis |
ORPHA:2812 |
| Netherton Syndrome |
|
Allergic rhinitis, Eczematoid dermatitis, Chronic rhinitis, Parakeratosis, Erythroderma, Recurren... |
OMIM:256500 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis |
OMIM:618527 |
| Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma, Generalized hyperkeratosis |
OMIM:133200 |
| Anonychia With Flexural Pigmentation |
|
Follicular hyperkeratosis, Hyperkeratosis |
ORPHA:69125 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczematoid dermatitis, Thrombocytopenia, Increased mean platelet volume |
OMIM:617443 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79399 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Autoimmune hemol... |
OMIM:616100 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Blepharitis, Psoriasiform dermatitis, Ichthyosis |
OMIM:616834 |
| Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Recurrent sinusitis |
OMIM:617765 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
| Bullous Pemphigoid |
|
Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis |
ORPHA:703 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections |
OMIM:614372 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:89838 |
| Hypotrichosis 6 |
|
Erythema, Pruritus, Follicular hyperkeratosis |
OMIM:607903 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Pneum... |
OMIM:618806 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Eosin... |
OMIM:617237 |
| Superficial Epidermolytic Ichthyosis |
|
Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Thin skin |
ORPHA:455 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczematoid dermatitis, Dry skin, Ichthyosis, Cutis laxa, Hyperkeratosis |
OMIM:612379 |
| Pityriasis Rubra Pilaris |
|
Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy... |
ORPHA:2897 |
| Uv-Sensitive Syndrome 3 |
|
Dry skin |
OMIM:614640 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Eczematoid... |
ORPHA:436159 |
| Immunodeficiency 50 |
|
Lymphopenia, Eczematoid dermatitis, Neutropenia |
OMIM:300988 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Punctate keratitis, Palmop... |
OMIM:602540 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Dry skin, Ichthyosis, Scaling skin, Hyperkeratosis, Congenital nonbullous ichthyosiform... |
OMIM:614457 |
| Epidermolytic Hyperkeratosis 1 |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Erythroderma, Scaling... |
OMIM:113800 |
| Pili Torti-Onychodysplasia Syndrome |
|
Dry skin, Generalized keratosis follicularis, Palmoplantar keratoderma, Eczematoid dermatitis |
ORPHA:2890 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:324964 |
| Odontoonychodermal Dysplasia |
|
Erythema, Orthokeratosis, Hypergranulosis, Dry skin, Palmoplantar erythema, Palmoplantar hyperker... |
OMIM:257980 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Hepatosplenomegaly, ... |
OMIM:606367 |
| Neonatal Lupus Erythematosus |
|
Malar rash, Skin rash, Parakeratosis, Maculopapular exanthema, Hyperkeratosis |
ORPHA:398124 |
| Kid Syndrome |
|
Folliculitis, Palmoplantar keratoderma, Acne inversa, Congenital ichthyosiform erythroderma, Post... |
ORPHA:477 |
| Lichen Planopilaris |
|
Skin ulcer, Pruritus, Hyperkeratosis, Hepatitis |
ORPHA:525 |
| Schopf-Schulz-Passarge Syndrome |
|
Dry skin, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:224750 |
| Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Erythroderma, Hyperkeratosis, Scaling skin |
OMIM:609180 |
| Idiopathic Localized Lipodystrophy |
|
Erythema, Inflammatory abnormality of the skin, Scleroderma, Morphea, Scaling skin, Pruritus |
ORPHA:90158 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Chronic rhinitis, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:615225 |
| Phenylketonuria |
|
Dry skin, Eczematoid dermatitis, Scleroderma |
OMIM:261600 |
| Familial Benign Chronic Pemphigus |
|
Erythema, Acantholysis, Hyperkeratosis, Skin vesicle |
ORPHA:2841 |
| Alopecia Universalis |
|
Atopic dermatitis, Psoriasiform dermatitis |
ORPHA:701 |
| Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
| Darier Disease |
|
Thickened skin, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Acrokeratosis, Skin... |
ORPHA:218 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... |
OMIM:106300 |
| Immunodeficiency 104 |
|
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Sple... |
OMIM:608971 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
| Dermoodontodysplasia |
|
Dry skin |
OMIM:125640 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczematoid dermatitis |
ORPHA:2101 |
| Dracunculiasis |
|
Skin ulcer, Skin rash, Arthritis, Pruritus, Recurrent cutaneous abscess formation |
ORPHA:231 |
| Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Skin vesicle, Acantholysis, Pr... |
ORPHA:555905 |
| Epidermolytic Palmoplantar Keratoderma |
|
Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke... |
ORPHA:2199 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis,... |
OMIM:618282 |
| Dermatofibrosarcoma Protuberans |
|
Thickened skin, Skin ulcer, Erythema |
ORPHA:31112 |
| Uv-Sensitive Syndrome 1 |
|
Dry skin |
OMIM:600630 |
| Sézary Syndrome |
|
Dry skin, Palmoplantar keratoderma, Pruritus, Erythroderma |
ORPHA:3162 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dry skin, Inflammatory abnormality of the skin, Hyperkeratosis, Ichthyosis |
OMIM:610768 |
| Prolidase Deficiency |
|
Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, Crusting erythematous dermatitis, Pruri... |
ORPHA:742 |
| Ige Responsiveness, Atopic |
|
Allergic rhinitis, Eczematoid dermatitis |
OMIM:147050 |
| Chilblain Lupus 1 |
|
Skin ulcer, Chilblains |
OMIM:610448 |
| Leopard Syndrome 3 |
|
Webbed neck, Hyperkeratosis, Dry skin, Epidermal hyperkeratosis |
OMIM:613707 |
| Irida Syndrome |
|
Hyperkeratosis, Ichthyosis, Pallor |
ORPHA:209981 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
| Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis, Hyperkeratosis |
OMIM:610227 |
| Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate |
ORPHA:90283 |
| Neuropathy, Hereditary Sensory, Type If |
|
Osteomyelitis, Hyperkeratosis |
OMIM:615632 |
| Acral Peeling Skin Syndrome |
|
Erythema, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Scaling skin |
ORPHA:263534 |
| Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Psoriasiform lesion, Malar rash, Cheilitis, Hyperkeratosis |
ORPHA:163525 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
| Acrokeratosis Verruciformis |
|
Acrokeratosis, Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis |
OMIM:101900 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:312863 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
| Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Chilblains, Scaling skin |
OMIM:612952 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... |
ORPHA:37042 |
| Sapho Syndrome |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:793 |
| Netherton Syndrome |
|
Eczematoid dermatitis, Dry skin, Skin rash, Ichthyosis, Acanthosis nigricans, Erythroderma, Conge... |
ORPHA:634 |
| Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
| Dowling-Degos Disease |
|
Hyperkeratotic papule, Acne inversa, Skin vesicle, Arthritis, Pruritus, Hyperkeratosis |
ORPHA:79145 |
| Chromomycosis |
|
Hyperkeratotic papule, Keratitis, Hyperparakeratosis, Keratoconjunctivitis sicca, Pruritus, Hyper... |
ORPHA:182 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin, Neonatal death |
OMIM:301021 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Punctate keratitis, Keratoconjunctivitis sicca, Palmoplantar hyperkeratosis, Follicular... |
OMIM:617388 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Erythroderma, Ichthyosis, Hypergranulosis |
OMIM:615022 |
| Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
| Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
| Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Follicular hyperkeratosis, Erythroderma, Generalized ichthyosis, Pruritus |
OMIM:608649 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Dry skin, Hyperkeratosis |
ORPHA:1028 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosifo... |
OMIM:606545 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Focal friction-related palmoplantar hyperkera... |
ORPHA:2200 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia |
OMIM:300299 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Thickened skin, Hyperkeratosis |
OMIM:247100 |
| Immunodeficiency 66 |
|
Pustule, Recurrent skin infections |
OMIM:618847 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Autoimmune hemolytic anemia, Interface hepati... |
OMIM:243150 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
| Immunodeficiency, Common Variable, 10 |
|
Recurrent otitis media, Recurrent pneumonia, Psoriasiform dermatitis, Recurrent sinusitis |
OMIM:615577 |
| Riddle Syndrome |
|
Dry skin |
OMIM:611943 |
| Ataxia-Photosensitivity-Short Stature Syndrome |
|
Dry skin |
ORPHA:1184 |
| Hypohidrotic Ectodermal Dysplasia |
|
Eczematoid dermatitis, Dry skin, Keratoconjunctivitis sicca, Sinusitis, Inflammatory abnormality ... |
ORPHA:238468 |
| Acute Generalized Exanthematous Pustulosis |
|
Cheilitis, Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic dermal infiltratio... |
ORPHA:293173 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Erythema nodosum, Neutropenia, Abnormal T cell morphology |
OMIM:615214 |
| Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Eczematoid dermatitis, Thrombocytopenia |
OMIM:614493 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Atopic dermatitis, Pneumonia, Rheumatoid arthritis, Bronchiectasis, Recurrent ... |
ORPHA:183675 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Palmoplantar hy... |
ORPHA:79501 |
| Chronic Mucocutaneous Candidiasis |
|
Erythema, Hepatitis, Skin ulcer, Skin rash, Pruritus, Cheilitis, Hyperkeratosis |
ORPHA:1334 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Hyperkeratosis, Skin ulcer, Penetrating foot ulcers |
ORPHA:36386 |
| Ichthyosis With Confetti |
|
Ichthyosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Pruritus, Congenital nonbull... |
OMIM:609165 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Plantar hyperkeratosis, Pruritus |
OMIM:616487 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Recurrent otitis media, Hyperkeratosis |
OMIM:618625 |
| Bullous Impetigo |
|
Pustule, Septic arthritis, Recurrent bacterial skin infections |
ORPHA:36237 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Uveitis, Sacroiliac arthritis, Malar rash, Psoriasiform dermatitis, Skin rash, Psoriasiform lesio... |
ORPHA:85436 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Erythema, Chapped lip, Psoriasiform dermatitis, Pustule, Scaling skin, Recurrent bacterial skin i... |
ORPHA:294023 |
| Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczematoid dermatitis |
OMIM:618116 |
| Variegate Porphyria, Childhood-Onset |
|
Atopic dermatitis, Epidermal hyperkeratosis |
OMIM:620483 |
| Juvenile Arthritis |
|
Leukocytosis, Skin rash, Thrombocytosis |
OMIM:618795 |
| Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Chronic sinusitis, Thrombocytopenia, Acute lymphoblastic l... |
OMIM:606593 |
| Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Erythema, Orthokeratosis, Congenital ichthyosiform erythroderma, Parakeratosis, Hyperkeratosis |
OMIM:308050 |
| Omenn Syndrome |
|
Pneumonia, Thickened skin, Dry skin, Erythroderma, Pruritus, Thyroiditis |
ORPHA:39041 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Scaling skin, Hyperke... |
ORPHA:454831 |
| Chronic Recurrent Multifocal Osteomyelitis 3 |
|
Osteomyelitis, Palmoplantar pustulosis |
OMIM:259680 |
| Hydroa Vacciniforme |
|
Papulovesicular eruption, Keratitis, Eczematoid dermatitis, Malar rash, Superficial dermal periva... |
ORPHA:330058 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Plantar hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash |
OMIM:619175 |
| Darier-White Disease |
|
Subungual hyperkeratotic fragments, Acantholysis, Pruritus, Acrokeratosis |
OMIM:124200 |
| Harlequin Ichthyosis |
|
Ichthyosis, Erythroderma, Congenital ichthyosiform erythroderma, Hyperkeratosis |
ORPHA:457 |
| Atelis Syndrome 1 |
|
Dry skin, Bronchiectasis, Glue ear, Eczematoid dermatitis |
OMIM:620184 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... |
OMIM:300635 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Thickened skin, Diffuse palmoplantar hyperkeratosis, Recurrent cutaneous fungal infections, Angul... |
ORPHA:495 |
| Elastoderma |
|
Cutis laxa, Eczematoid dermatitis, Erysipelas, Premature skin wrinkling |
ORPHA:228240 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Skin rash, Impa... |
OMIM:619924 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperkerat... |
OMIM:148700 |
| Pressure-Induced Localized Lipoatrophy |
|
Erythema, Inflammatory abnormality of the skin |
ORPHA:90160 |
| Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transf... |
OMIM:269840 |
| Hatipoglu Immunodeficiency Syndrome |
|
Atopic dermatitis, Thickened skin, Eczematoid dermatitis, Recurrent otitis media, Dry skin, Petec... |
OMIM:620331 |
| Lipoid Proteinosis |
|
Pustule, Thickened skin, Acne, Hyperkeratosis |
ORPHA:530 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Cutaneous abscess, Recurrent otitis media, Decreased proportion of class-switc... |
OMIM:618944 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Dry skin, Acanthosis nigricans |
ORPHA:3085 |
| Immunodeficiency 55 |
|
Ichthyosis, Dry skin, Recurrent skin infections, Eczematoid dermatitis |
OMIM:617827 |
| Rhizomelic Chondrodysplasia Punctata |
|
Dry skin, Ichthyosis |
ORPHA:177 |
| Papa Syndrome |
|
Skin ulcer, Crohn's disease, Pustule, Increased inflammatory response, Myositis, Arthritis, Acne |
ORPHA:69126 |
| Intermediate Uveitis |
|
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis |
ORPHA:279914 |
| Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis |
ORPHA:494 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Follicular hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma |
OMIM:613576 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
| Chronic Actinic Dermatitis |
|
Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Pruritus |
ORPHA:330064 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Psoriasiform dermatitis, Decreased proportion of CD4-positive ... |
ORPHA:221139 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Reduced natural killer cell count, Skin rash, Perianal absce... |
OMIM:618108 |
| Acrokeratosis Verruciformis Of Hopf |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
ORPHA:79151 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis |
OMIM:221700 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Hypergranulosis, Hyper... |
OMIM:242100 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
| Woolly Hair-Skin Fragility Syndrome |
|
Acantholysis, Palmoplantar keratoderma |
OMIM:620415 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Ichthyosis, Eczematoid dermatitis |
ORPHA:3055 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Increased T cell count, Dec... |
OMIM:620449 |
| Meige Disease |
|
Cobblestone-like hyperkeratosis, Recurrent skin infections, Skin ulcer, Recurrent bacterial skin ... |
ORPHA:90186 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Spinocerebellar Ataxia Type 34 |
|
Dry skin |
ORPHA:1955 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Dry skin, Palmoplantar keratoderma, Scaling skin |
OMIM:618373 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin rash, Thromb... |
OMIM:618963 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent pneumonia, Recurrent otitis media, Abnormal lymphocyte morphology, Psoriasiform dermati... |
ORPHA:293978 |
| Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... |
OMIM:612260 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
| Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly |
|
Dry skin |
OMIM:600906 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Thickened skin, Skin rash, Thin skin |
ORPHA:1658 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Trichothiodystrophy 1, Photosensitive |
|
Dry skin, Keratoconjunctivitis sicca, Erythroderma, Hyperkeratosis, Congenital nonbullous ichthyo... |
OMIM:601675 |
| Noonan Syndrome 8 |
|
Webbed neck, Hyperkeratosis, Eczematoid dermatitis, Palmoplantar cutis laxa |
OMIM:615355 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Skin ulcer, Skin rash, Otitis media, Arthritis, Sinusitis, Inflammatory abnormality of... |
ORPHA:229717 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Arthritis, ... |
OMIM:604416 |
| H Syndrome |
|
Psoriasiform dermatitis, Ichthyosis, Chronic rhinitis, Scleroderma, Bronchiectasis |
ORPHA:168569 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent otitis media, Lymphopenia, S... |
ORPHA:277 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Skin rash |
OMIM:124950 |
| Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Dry skin, Acanthosis nigricans |
OMIM:268020 |
| Dermoodontodysplasia |
|
Dry skin, Thin skin |
ORPHA:1660 |
| Pemphigus Erythematosus |
|
Acantholysis, Malar rash |
ORPHA:79480 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusitis, Recurrent bacterial skin infection... |
ORPHA:217390 |
| Thyroid Dyshormonogenesis 1 |
|
Dry skin |
OMIM:274400 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Dry skin, Inflammation of the large intestine, Hyperkeratosis |
OMIM:614576 |
| Xeroderma Pigmentosum Variant |
|
Dry skin, Keratitis |
ORPHA:90342 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Angular cheilitis, Follicular hyperkeratosis, Skin vesicle |
OMIM:613102 |
| Spinocerebellar Ataxia Type 42 |
|
Psoriasiform dermatitis |
ORPHA:458803 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis |
ORPHA:79099 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Dry skin, Ichthyosis |
OMIM:616943 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Crusting erythematous dermatitis, Erythema, Palmoplantar hyperkeratosis, Thin skin |
ORPHA:158673 |
| Singleton-Merten Syndrome 2 |
|
Psoriasiform lesion, Hyperkeratosis |
OMIM:616298 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Dry skin |
OMIM:275100 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Blepharitis, Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:602400 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Dry skin, Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Punctate palmoplantar hyperkerat... |
ORPHA:69087 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Dry skin |
OMIM:129490 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin, Thin skin |
OMIM:617364 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Erythema, Inflammatory abnormality of the skin |
ORPHA:90159 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Hyperkeratotic papule, Pruritus, Skin vesicle |
ORPHA:79410 |
| Reticular Dysgenesis |
|
Chronic otitis media, Skin ulcer, Skin rash |
ORPHA:33355 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Hyperparakeratosis |
ORPHA:276280 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Folliculitis, Palmoplantar keratoderma, Keratitis, Facial erythema, Conjunctivitis, Blepharitis |
OMIM:612843 |
| Immunodeficiency 102 |
|
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... |
OMIM:301082 |
| Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
| Necrobiosis Lipoidica |
|
Erythema, Inflammatory abnormality of the skin, Skin ulcer |
ORPHA:542592 |
| Familial Melanoma |
|
Dry skin |
ORPHA:618 |
| Porphyria Cutanea Tarda, Type I |
|
Eczematoid dermatitis |
OMIM:176090 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Dry skin |
OMIM:614450 |
| Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Dry skin, Acanthosis nigricans |
OMIM:262190 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Folliculitis, Enterocolitis, Pancolitis |
OMIM:612567 |
| Milroy Disease |
|
Hyperkeratosis, Erysipelas |
ORPHA:79452 |
| Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Pyoderma gangrenosum, Recurrent ski... |
OMIM:616576 |
| Reynolds Syndrome |
|
Skin ulcer, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, Arthritis, Pruritus, ... |
ORPHA:779 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Disseminated molluscum contagiosum, Colonic eosinop... |
OMIM:617638 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Osteomyelitis, Chronic otitis media, Dry skin |
OMIM:618010 |
| Trichodysplasia-Xeroderma Syndrome |
|
Dry skin |
ORPHA:3361 |
| De Sanctis-Cacchione Syndrome |
|
Conjunctivitis, Parakeratosis, Keratitis |
OMIM:278800 |
| Immunodeficiency, Common Variable, 4 |
|
Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
| Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Palmoplantar keratoderma, Palmoplantar scaling skin, Palmoplantar erythema, Palmoplantar hyperker... |
OMIM:605676 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer, Foot osteomyelitis |
ORPHA:139578 |
| Congenital Ichthyosiform Erythroderma |
|
Palmoplantar keratoderma, Keratitis, Ichthyosis, Erythroderma, Pruritus |
ORPHA:79394 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... |
OMIM:613493 |
| Adiposis Dolorosa |
|
Dry skin, Recurrent skin infections, Arthritis |
ORPHA:36397 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
| Uremic Pruritus |
|
Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections, Dry skin |
ORPHA:94059 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Dry skin, Eczematoid dermatitis |
OMIM:620191 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Arthritis, Erythema nodosum |
OMIM:611762 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Recurrent pneumonia, Skin rash, Hypoplasia of the thymus, Impaired lymphocyte transfor... |
OMIM:300400 |
| Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Pustule, Myositis, Skin ve... |
ORPHA:48104 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
| Leopard Syndrome 2 |
|
Webbed neck, Dry skin |
OMIM:611554 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Hyperkeratosis, Skin ulcer |
ORPHA:1806 |
| Immunodeficiency 13 |
|
Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop... |
OMIM:615518 |
| Zinc Deficiency, Transient Neonatal |
|
Eczematoid dermatitis |
OMIM:608118 |
| Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Plantar hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79397 |
| Ramon Syndrome |
|
Hyperkeratosis |
ORPHA:3019 |
| Tooth Agenesis, Selective, 4 |
|
Dry skin, Palmar hyperkeratosis, Thin skin |
OMIM:150400 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis |
OMIM:616744 |
| Cutaneous Small Vessel Vasculitis |
|
Erythema, Recurrent skin infections, Purpura, Skin rash |
ORPHA:889 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid arthritis, Psoriasiform dermatitis, Hashimoto thyroiditis, Membrano... |
ORPHA:49041 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Eczematoid dermatitis, Thrombocytopenia, Stillbirth |
OMIM:619751 |
| Acrodermatitis Enteropathica |
|
Erythema, Skin ulcer, Dry skin, Pustule, Conjunctivitis, Cheilitis, Blepharitis |
ORPHA:37 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:280785 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Dry skin |
OMIM:620502 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
| Pemphigus Vulgaris |
|
Acantholysis, Recurrent cutaneous abscess formation |
ORPHA:704 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Dry skin |
ORPHA:2617 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Hashimoto thyroiditis, Thickened skin, Psoriasiform dermatitis, Hepatitis |
ORPHA:436252 |
| Cardiofaciocutaneous Syndrome 3 |
|
Webbed neck, Hyperkeratosis |
OMIM:615279 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth... |
OMIM:609628 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Pustule, Hyperkeratosis, Stomatitis |
OMIM:612852 |
| Complex Regional Pain Syndrome |
|
Erythema, Dry skin |
ORPHA:83452 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Dry skin |
ORPHA:95715 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2698 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin |
ORPHA:1035 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Dry skin, Hyperkeratosis |
OMIM:601701 |
| Limb-Mammary Syndrome |
|
Chronic irritative conjunctivitis, Dry skin, Psoriasiform dermatitis, Blepharitis |
ORPHA:69085 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,... |
OMIM:619510 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Skin rash, Thrombocytopenia, Neutropenia, Anemia, Conjunctivitis |
OMIM:603552 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Thickened skin, Palmoplantar keratoderma, Skin ulcer, Erythema |
ORPHA:659 |
| Poikiloderma With Neutropenia |
|
Recurrent pneumonia, Palmoplantar keratoderma, Recurrent otitis media, Skin rash, Recurrent sinus... |
OMIM:604173 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent pneumonia, Chronic mucocutaneous candidiasis, Molluscum contagiosum, Lymphopenia, Disse... |
OMIM:614868 |
| Hidrotic Ectodermal Dysplasia |
|
Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,... |
ORPHA:189 |
| Van Den Bosch Syndrome |
|
Acrokeratosis, Recurrent skin infections |
ORPHA:3417 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Eczematoid dermatitis, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis, Se... |
ORPHA:83617 |
| Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... |
OMIM:617780 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Pachyonychia Congenita 3 |
|
Palmoplantar keratoderma, Chapped lip, Follicular hyperkeratosis, Palmar hyperkeratosis, Plantar ... |
OMIM:615726 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616029 |
| Ddost-Cdg |
|
Dry skin |
ORPHA:300536 |
| Refsum Disease |
|
Dry skin, Ichthyosis |
ORPHA:773 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Hepatitis, Skin ulcer, Osteomyelitis, Skin rash, Recurrent cutaneous abscess... |
ORPHA:47 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Reduced natural killer cell coun... |
ORPHA:276 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Dry skin, Facial erythema, Scaling skin, Sclerodactyly |
ORPHA:1010 |
| C1Q Deficiency 2 |
|
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Facial erythema, Arthritis, B... |
OMIM:620321 |
| Erythema Elevatum Diutinum |
|
Skin vesicle, Skin rash |
ORPHA:90000 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Pruritus, Maculo... |
ORPHA:98848 |
| Immunodeficiency, Common Variable, 11 |
|
Abnormal T cell count, Inflammation of the large intestine, Decreased proportion of class-switche... |
OMIM:615767 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia |
OMIM:619693 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Enterocolitis, Hyperkeratosis |
OMIM:301108 |
| Kanzaki Disease |
|
Dry skin, Hyperkeratosis, Petechiae |
OMIM:609242 |
| Acrogeria |
|
Skin ulcer, Excessive wrinkled skin, Thin skin |
ORPHA:2500 |
| Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Chronic mucocutane... |
OMIM:618131 |
| Cardiofaciocutaneous Syndrome |
|
Webbed neck, Palmoplantar keratoderma, Dry skin, Redundant skin, Ichthyosis, Excessive wrinkled s... |
ORPHA:1340 |
| Cortisone Reductase Deficiency 1 |
|
Acne |
OMIM:604931 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Decreased proportion of CD8-positive... |
ORPHA:911 |
| Warty Dyskeratoma |
|
Acrokeratosis, Acantholysis, Epidermal thickening |
ORPHA:69745 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Abnormal T cell count, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recu... |
OMIM:607594 |
| Peroxisome Biogenesis Disorder 14B |
|
Dry skin |
OMIM:614920 |
| Jung Syndrome |
|
Dry skin |
ORPHA:2321 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Acne inversa, Panniculitis, Pyoderma gangrenosum, Cystic acne |
OMIM:608068 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis |
ORPHA:1883 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Caspase 8 Deficiency |
|
Pneumonia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Splenomegaly |
OMIM:607271 |
| Immunodeficiency 115 With Autoinflammation |
|
Eczematoid dermatitis, Splenomegaly, Superficial dermal perivascular inflammatory infiltrate, Dec... |
OMIM:620632 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cutaneous abscess, Chr... |
OMIM:619752 |
| Cutaneous Collagenous Vasculopathy |
|
Petechiae, Erythema, Pruritus, Skin rash |
ORPHA:280779 |
| Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Skin ulcer, Morphea |
OMIM:620443 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Skin rash, Arthritis, Anemia, Pruritus |
ORPHA:37748 |
| Hydroxykynureninuria |
|
Dry skin, Stomatitis |
ORPHA:79155 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Atopic dermatitis, Decreased proportion of memory B cells, Otitis media, B lymphocytopenia, Sinus... |
ORPHA:70593 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Purpura, Skin ulcer, Thin skin |
ORPHA:743 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Eosinophilia, Recurrent skin infections, Eosinophilic infiltration of the esop... |
OMIM:620532 |
| Candidiasis, Familial, 8 |
|
Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis |
OMIM:615527 |
| Pachyonychia Congenita 2 |
|
Angular cheilitis, Subungual hyperkeratosis, Folliculitis, Palmoplantar hyperkeratosis |
OMIM:167210 |
| Blau Syndrome |
|
Posterior uveitis, Erythema, Keratitis, Skin ulcer, Dry skin, Ichthyosis, Skin rash, Synovitis, I... |
ORPHA:90340 |
| Immunodeficiency 114, Folate-Responsive |
|
Atopic dermatitis, Skin ulcer |
OMIM:620603 |
| Rapp-Hodgkin Syndrome |
|
Recurrent otitis media, Dry skin, Palmoplantar keratoderma, Thin skin |
OMIM:129400 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Chapped lip, Recurrent skin infections,... |
ORPHA:158668 |
| Idiopathic Trachyonychia |
|
Atopic dermatitis, Circumungual hyperkeratosis, Ichthyosis |
ORPHA:79153 |
| Systemic Lupus Erythematosus |
|
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia... |
OMIM:152700 |
| Xeroderma Pigmentosum |
|
Thickened skin, Erythema, Keratitis, Dry skin, Hyperkeratosis, Blepharitis, Thin skin |
ORPHA:910 |
| Mhc Class I Deficiency 1 |
|
Bronchiectasis, Skin ulcer, Chronic otitis media, Chronic sinusitis |
OMIM:604571 |
| Juvenile Dermatomyositis |
|
Erythema, Skin ulcer, Dry skin, Skin rash, Myositis, Arthritis, Pruritus, Pericarditis |
ORPHA:93672 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
| Prolidase Deficiency |
|
Recurrent pneumonia, Skin ulcer, Eczematoid dermatitis, Petechiae, Crusting erythematous dermatitis |
OMIM:170100 |
| Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Leukocytosis, Otitis media, Skin rash, Inflammatory ... |
ORPHA:3392 |
| Aplasia Cutis Congenita |
|
Erythema, Skin ulcer |
ORPHA:1114 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut... |
OMIM:243700 |
| Centrifugal Lipodystrophy |
|
Erythema, Inflammatory abnormality of the skin, Lymphadenitis, Scaling skin |
ORPHA:90156 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Palmoplantar hyperkeratos... |
OMIM:259100 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Lymphopenia, Hepatosplenomegaly, Otitis media, Eosinop... |
ORPHA:169160 |
| Noonan Syndrome 5 |
|
Webbed neck, Dry skin |
OMIM:611553 |
| Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
| Epidermodysplasia Verruciformis |
|
Pustule, Seborrheic dermatitis, Recurrent skin infections |
ORPHA:302 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis |
OMIM:120100 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Chilblains, Intestinal inflammatio... |
OMIM:619858 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Synovitis, Glomerulonephritis, Arthritis, Serositis |
ORPHA:567544 |
| Pachyonychia Congenita |
|
Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Angular chei... |
ORPHA:2309 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Dry skin |
OMIM:300860 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Recurrent skin infections, Thrombocytopenia |
OMIM:614171 |
| Mycetoma |
|
Osteomyelitis, Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections |
ORPHA:2583 |
| Dermatomyositis |
|
Erythema, Heliotrope rash, Skin ulcer, V-sign, Dry skin, Skin rash, Myositis, Facial erythema, Pa... |
ORPHA:221 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Keratitis, Ichthyosis, Keratoconjunctivitis sicca, Hyperkeratosis, Recurrent bacterial skin infec... |
OMIM:148210 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eczematoid dermatitis, Skin ulcer, Osteomyelitis, Skin rash, Skin vesicle, Pruritus, Chronic otit... |
ORPHA:2314 |
| Distal Duplication 6P |
|
Dry skin |
ORPHA:1745 |
| Costello Syndrome |
|
Redundant skin, Acanthosis nigricans, Hyperkeratosis, Lack of skin elasticity |
ORPHA:3071 |
| Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Eczematoid dermatitis |
OMIM:177000 |
| Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Osteomyelitis, Skin ulcer |
ORPHA:2218 |
| Lymphatic Malformation 12 |
|
Hyperkeratosis |
OMIM:620014 |
| Noonan Syndrome 13 |
|
Recurrent otitis media, Webbed neck, Dry skin |
OMIM:619087 |
| Microscopic Polyangiitis |
|
Erythema, Uveitis, Skin ulcer, Episcleritis, Skin rash, Increased inflammatory response, Peritoni... |
ORPHA:727 |
| Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent ... |
ORPHA:486 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Eosinophilia, Bronchiectasis |
OMIM:618523 |
| Reactive Arthritis |
|
Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Pustule, Arthr... |
ORPHA:29207 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Pancytopenia, Decreased proportion of ... |
ORPHA:572 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Skin rash, Otitis media, Hashimoto thyroiditis, Juvenile rheumatoi... |
ORPHA:275 |
| Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome |
|
Erythema, Congenital nonbullous ichthyosiform erythroderma, Dry skin |
OMIM:620510 |
| Hereditary Acrokeratotic Poikiloderma |
|
Erythema, Eczematoid dermatitis, Skin ulcer, Ichthyosis, Pustule, Keratoconjunctivitis, Palmoplan... |
ORPHA:2907 |
| Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Arthritis, Anemia, Uveitis |
OMIM:607115 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis |
ORPHA:1809 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
| Juvenile Hyaline Fibromatosis |
|
Skin ulcer |
ORPHA:2028 |
| Spontaneous Periodic Hypothermia |
|
Pallor, Skin rash |
ORPHA:29822 |
| Calciphylaxis |
|
Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
| Tangier Disease |
|
Dry skin |
OMIM:205400 |
| Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... |
ORPHA:443811 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Lymphop... |
OMIM:618935 |
| Recon Progeroid Syndrome |
|
Dry skin, Keratoconjunctivitis sicca, Scaling skin, Thin skin |
OMIM:620370 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
