Rare diseases that primarily involve the dermatologic & skin system. Each links to its full hub — overview, specialists, clinical trials, medications and community.
How this grouping is built. These conditions are grouped by a clinical keyword match on the disease name — the same conservative classifier Tomeko uses to pick each hub’s system motif. It is a Tomeko working grouping, not an official Orphanet organ classification, and some conditions affect more than one system. Every condition is itself catalogued from NIH GARD (Genetic and Rare Diseases Information Center) and Orphanet (orpha.net), and each hub cites its own sources. Sorted A→Z by name · 250 conditions · last built 2026-08-30.
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A52
- Acquired Cutis Laxa
- Acquired Epidermolysis Bullosa
- Acquired Ichthyosis
- Acral Dystrophic Epidermolysis Bullosa
- Acrokerato-Elastoidosis
- Acute Febrile Neutrophilic Dermatosis
- Adams-Oliver Syndrome
- Alopecia Antibody Deficiency
- Alopecia Areata 1
- Alopecia Areata 2
- Alopecia Congenita Keratosis Palmoplantaris
- Alopecia Mucinosa
- Alopecia Totalis
- Alopecia Universalis
- Alopecia Universalis Congenita
- Alopecia Universalis Onychodystrophy Vitiligo
- Alopecia, Androgenetic, 1
- Alopecia, Androgenetic, 2
- Alopecia, Androgenetic, 3
- Alopecia, Congenital
- ANE Syndrome
- Annular Epidermolytic Ichthyosis
- Aplasia Cutis Congenita
- Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
- Aplasia Cutis-Myopia Syndrome
- Aquagenic Palmoplantar Keratoderma
- Autoinflammation, Panniculitis, And Dermatosis Syndrome, Autosomal Recessive
- Autosomal Dominant Ichthyosis Vulgaris
- Autosomal Dominant Keratitis-Ichthyosis-Hearing Loss Syndrome
- Autosomal Dominant Lamellar Ichthyosis
- Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
- Autosomal Recessive Congenital Ichthyosis
- Autosomal Recessive Congenital Ichthyosis 1
- Autosomal Recessive Congenital Ichthyosis 10
- Autosomal Recessive Congenital Ichthyosis 11
- Autosomal Recessive Congenital Ichthyosis 2
- Autosomal Recessive Congenital Ichthyosis 3
- Autosomal Recessive Congenital Ichthyosis 4A
- Autosomal Recessive Congenital Ichthyosis 4B
- Autosomal Recessive Congenital Ichthyosis 5
- Autosomal Recessive Congenital Ichthyosis 6
- Autosomal Recessive Congenital Ichthyosis 7
- Autosomal Recessive Congenital Ichthyosis 8
- Autosomal Recessive Congenital Ichthyosis 9
- Autosomal Recessive Cutis Laxa Type 2
- Autosomal Recessive Cutis Laxa Type 2, Classic Type
- Autosomal Recessive Cutis Laxa Type 2B
- Autosomal Recessive Cutis Laxa Type 2C
- Autosomal Recessive Cutis Laxa Type 2D
- Autosomal Recessive Epidermolytic Ichthyosis
- Autosomal Recessive Keratitis-Ichthyosis-Deafness Syndrome
- Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
B2
C26
- Calciphylaxis Cutis
- Central Centrifugal Cicatricial Alopecia
- Centripetalis Recessive Dystrophic Epidermolysis Bullosa
- Chemotherapy-Induced Alopecia
- Choroidal Atrophy-Alopecia Syndrome
- Circumscribed Palmoplantar Hypokeratosis
- Congenital Cataract-Ichthyosis Syndrome
- Congenital Erosive And Vesicular Dermatosis
- Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
- Corneal Intraepithelial Dyskeratosis-Palmoplantar Hyperkeratosis-Laryngeal Dyskeratosis Syndrome
- Crandall Syndrome
- Cronkhite-Canada Syndrome
- Curly Hair - Acral Keratoderma - Caries Syndrome
- Cutis Gyrata Of Scalp
- Cutis Laxa
- Cutis Laxa - Marfanoid Syndrome
- Cutis Laxa With Osteodystrophy
- Cutis Laxa, Autosomal Dominant
- Cutis Laxa, Autosomal Dominant 1
- Cutis Laxa, Autosomal Dominant 2
- Cutis Laxa, Autosomal Dominant 3
- Cutis Laxa, Autosomal Recessive, Type 1A
- Cutis Laxa, Autosomal Recessive, Type 1B
- Cutis Laxa, Autosomal Recessive, Type 1d
- Cutis Laxa, Autosomal Recessive, Type 2E
- Cutis Laxa, X-Linked
D8
- Didymosis Aplasticosebacea
- Diffuse Alopecia Areata
- Diffuse Nonepidermolytic Palmoplantar Keratoderma
- Diffuse Palmoplantar Hyperkeratosis
- Diffuse Palmoplantar Keratoderma - Acrocyanosis Syndrome
- Diffuse Palmoplantar Keratoderma With Painful Fissures
- DK1-Congenital Disorder Of Glycosylation
- Dystrophic Epidermolysis Bullosa, Nails Only
E36
- Ehlers-Danlos Syndrome
- Endocrine Alopecia
- Epidermolysis Bullosa
- Epidermolysis Bullosa Dystrophica
- Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage
- Epidermolysis Bullosa Pruriginosa
- Epidermolysis Bullosa Simplex
- Epidermolysis Bullosa Simplex 1A, Generalized Severe
- Epidermolysis Bullosa Simplex 1C, Localized
- Epidermolysis Bullosa Simplex 1D, Generalized, Intermediate Or Severe, Autosomal Recessive
- Epidermolysis Bullosa Simplex 2A, Generalized Severe
- Epidermolysis Bullosa Simplex 2B, Generalized Intermediate
- Epidermolysis Bullosa Simplex 2C, Localized
- Epidermolysis Bullosa Simplex 2d, Generalized, Intermediate Or Severe, Autosomal Recessive
- Epidermolysis Bullosa Simplex 3, Localized Or Generalized Intermediate, With BP230 Deficiency
- Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
- Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
- Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
- Epidermolysis Bullosa Simplex Due To Plakophilin Deficiency
- Epidermolysis Bullosa Simplex Superficialis
- Epidermolysis Bullosa Simplex With Anodontia/hypodontia
- Epidermolysis Bullosa Simplex With Migratory Circinate Erythema
- Epidermolysis Bullosa Simplex With Mottled Pigmentation
- Epidermolysis Bullosa Simplex With Nail Dystrophy
- Epidermolysis Bullosa Simplex, Koebner Type
- Epidermolysis Bullosa Simplex, Ogna Type
- Epidermolysis Bullosa, Junctional 2A, Intermediate
- Epidermolysis Bullosa, Junctional 2B, Severe
- Epidermolysis Bullosa, Junctional 3A, Intermediate
- Epidermolysis Bullosa, Junctional 3B, Severe
- Epidermolysis Bullosa, Junctional 4, Intermediate
- Epidermolysis Bullosa, Junctional 5A, Intermediate
- Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
- Epidermolytic Ichthyosis
- Erosive Pustular Dermatosis Of The Scalp
- Exfoliative Ichthyosis
F7
G3
H8
- Haim-Munk Syndrome
- Hereditary Painful Callosities
- Hereditary Palmoplantar Keratoderma
- Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
- Hereditary Photodermatosis
- Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome
- Hypopigmentation-Punctate Palmoplantar Keratoderma Syndrome
- Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
I21
- Ichthyosis
- Ichthyosis Bullosa Of Siemens
- Ichthyosis Hystrix
- Ichthyosis Hystrix Gravior
- Ichthyosis Hystrix Of Curth-Macklin
- Ichthyosis Linearis Circumflexa
- Ichthyosis Prematurity Syndrome
- Ichthyosis Vulgaris
- Ichthyosis, Annular Epidermolytic 1
- Ichthyosis, Annular Epidermolytic, 2
- Ichthyosis, Congenital, Autosomal Recessive 12
- Ichthyosis, Congenital, Autosomal Recessive 13
- Ichthyosis, Congenital, Autosomal Recessive 14
- Ichthyosis, Hystrix-Like, With Hearing Loss
- Ichthyosis, X-Linked, Without Steroid Sulfatase Deficiency
- Ichthyosis-Oral And Digital Anomalies Syndrome
- IFAP Syndrome
- Inherited Cutis Laxa
- Inherited Epidermolysis Bullosa
- Inherited Ichthyosis
- Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma
J6
K8
- Keratinopathic Ichthyosis
- Keratitis Ichthyosis And Deafness Syndrome
- Keratoderma With Scleroatrophy Of The Extremities
- Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome
- Keratosis Palmaris Et Plantaris-Clinodactyly Syndrome
- Keratosis Palmoplantaris Striata 2
- Keratosis Palmoplantaris Striata 3
- Knuckle Pads, Deafness AND Leukonychia Syndrome
L9
M4
N2
O1
P33
- Pachyonychia Congenita 1
- Pachyonychia Congenita 2
- Pachyonychia Congenita 3
- Pachyonychia Congenita 4
- Pachyonychia Congenita Syndrome
- Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
- Palmoplantar Keratoderma, Bothnian Type
- Palmoplantar Keratoderma, Epidermolytic
- Palmoplantar Keratoderma, Epidermolytic, 2
- Palmoplantar Keratoderma, Nagashima Type
- Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
- Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
- Palmoplantar Keratoderma, Punctate Type 1A
- Palmoplantar Keratoderma, Punctate Type Ib
- Palmoplantar Keratoderma-Deafness Syndrome
- Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
- Palmoplantar Keratoderma-Spastic Paralysis Syndrome
- Palmoplantar Keratoderma-XX Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
- Palmoplantar Pustulosis
- Papillon-Lefèvre Syndrome
- PARC Syndrome
- Photosensitive Trichothiodystrophy
- Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome
- Pretibial Dystrophic Epidermolysis Bullosa
- Primary Essential Cutis Verticis Gyrata
- Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
- Primary Non-Essential Cutis Verticis Gyrata
- Progressive Recessive Dystrophic Epidermolysis Bullosa
- Proteosome-Associated Autoinflammatory Syndrome
- Punctate Acrokeratoderma Freckle-Like Pigmentation
- Punctate Palmoplantar Hyperkeratosis
- Punctate Palmoplantar Keratoderma Type 1
- Punctate Palmoplantar Keratoderma Type 2
R5
S9
- Scalp Syndrome
- Self-Healing Collodion Baby
- Severe Ichthyosis Vulgaris
- Sjogren-Larsson-Like Ichthyosis Without CNS Or Eye Involvement
- Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome
- Striate Palmoplantar Keratoderma
- Subcorneal Pustular Dermatosis
- Suprabasal Epidermolysis Bullosa Simplex
- Syndromic Recessive X-Linked Ichthyosis