Skin Diseases

Aagenaes syndrome
Aarskog syndrome
Abdominal chemodectomas with cutaneous angiolipomas
Absence of fingerprints congenital milia
Acanthosis nigricans - Not a rare disease
Acquired generalized lipodystrophy
Acral peeling skin syndrome
Acrodermatitis
Acrodermatitis enteropathica
Acrogeria, Gottron type
Acrokeratoelastoidosis of Costa
Actinic lichen planus
Acute febrile neutrophilic dermatosis
Acute intermittent porphyria
Adams-Oliver syndrome
Adiposis dolorosa
ADULT syndrome
Adult T-cell leukemia/lymphoma
Ainhum
Al-Gazali-Donnai-Mueller syndrome
Albinism deafness syndrome
Alkaptonuria
Alopecia epilepsy oligophrenia syndrome of Moynahan
Alopecia totalis
Alopecia universalis
Alopecia, epilepsy, pyorrhea, mental subnormality
Alopecia-contractures-dwarfism-intellectual disability syndrome
Alopecia-intellectual disability syndrome
Ambras syndrome
Ameloonychohypohidrotic syndrome
Aminolevulinate dehydratase deficiency porphyria
Amyopathic dermatomyositis
Angioma serpiginosum
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Annular atrophic lichen planus
Annular lichen planus
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
Antecubital pterygium
Aplasia cutis congenita
Aplasia cutis congenita intestinal lymphangiectasia
Aplasia cutis congenita of limbs recessive
AREDYLD
Arterial tortuosity syndrome
Arthrochalasia Ehlers-Danlos syndrome
Arthrogryposis and ectodermal dysplasia
Arthrogryposis renal dysfunction cholestasis syndrome
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
Ataxia telangiectasia
Atrophic lichen planus
Atrophoderma of Pasini and Pierini
Atrophoderma vermiculata
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant hyper IgE syndrome
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal erythropoietic protoporphyria
Autosomal recessive candidiasis familial chronic mucocutaneous
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Bannayan-Riley-Ruvalcaba syndrome
Barber Say syndrome
Barraquer-Simons syndrome
Basaran Yilmaz syndrome
Bazex-Dupre-Christol syndrome
Beare-Stevenson cutis gyrata syndrome
Becker nevus syndrome
Becker's nevus
Behçet disease
Benign eccrine spiradenoma
Biotinidase deficiency
Birt-Hogg-Dube syndrome
Bjornstad syndrome
Blau syndrome
Blepharo-cheilo-odontic syndrome
Bloom syndrome
Blue rubber bleb nevus syndrome
Book syndrome
Bork Stender Schmidt syndrome
Brittle cornea syndrome
Brunsting-Perry syndrome
Bullous dystrophy hereditary macular type
Buschke-Ollendorff syndrome
Campomelia Cumming type
Cantu syndrome
Cardiac-Valvular Ehlers-Danlos syndrome
Cardiofaciocutaneous syndrome
Cardiomyopathy dilated with woolly hair and keratoderma
Carney complex
Cartilage-hair hypoplasia
Cerebellar ataxia ectodermal dysplasia
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Cerebro-oculo-facio-skeletal syndrome
Cerebrotendinous xanthomatosis
Cervical hypertrichosis peripheral neuropathy
Chanarin-Dorfman syndrome
Chediak-Higashi syndrome
Cheilitis glandularis
CHILD syndrome
Chorea-acanthocytosis
Chromhidrosis
Chromosome 17q11.2 deletion syndrome
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
Chronic granulomatous disease
Chronic recurrent multifocal osteomyelitis
Circumferential skin creases Kunze type
Classical-like Ehlers-Danlos syndrome
Clouston syndrome
CLOVES syndrome
Cobb syndrome
Cockayne syndrome type I
Cockayne syndrome type II
Cockayne syndrome type III
COG7-CDG (CDG-IIe)
Combined immunodeficiency with skin granulomas
Congenital erythropoietic porphyria
Congenital generalized lipodystrophy
Congenital generalized lipodystrophy type 2 - See Congenital generalized lipodystrophy
Congenital generalized lipodystrophy type 4
Corneodermatoosseous syndrome
Corticosteroid-sensitive aseptic abscesses
Costello syndrome
Cowden syndrome
Crandall syndrome
Cranioectodermal dysplasia
Cronkhite-Canada disease
Cutaneous collagenous vasculopathy
Cutaneous mastocytoma
Cutaneous polyarteritis nodosa
Cutaneous sclerosis
Cutis laxa, autosomal dominant
Cutis laxa, autosomal recessive type 1
Cutis marmorata telangiectatica congenita
Cutis verticis gyrata
Dahlberg Borer Newcomer syndrome
Darier disease
Deafness conductive ptosis skeletal anomalies
Deafness enamel hypoplasia nail defects
Deafness-lymphedema-leukemia syndrome
Deficiency of interleukin-1 receptor antagonist
Dermal eccrine cylindroma
Dermatitis herpetiformis
Dermatofibroma - Not a rare disease
Dermatofibrosarcoma protuberans
Dermatomyositis
Dermatoosteolysis Kirghizian type
Dermatopathia pigmentosa reticularis
Dermatosparaxis Ehlers-Danlos syndrome
Dermochondrocorneal dystrophy of François
Dermoodontodysplasia
Diffuse cutaneous systemic sclerosis
Diffuse dermal angiomatosis
Disseminated superficial actinic porokeratosis
DOLK-CDG (CDG-Im)
Dominant dystrophic epidermolysis bullosa
DOOR syndrome
Dowling-Degos disease
Dubowitz syndrome
Dykes Markes Harper syndrome
Dyschromatosis symmetrica hereditaria 1
Dyschromatosis universalis hereditaria
Dyskeratosis congenita
Dyskeratosis congenita autosomal dominant
Dyskeratosis congenita autosomal recessive
Dyskeratosis congenita X-linked
Dystrophic epidermolysis bullosa
Ectodermal dysplasia skin fragility syndrome
Ectodermal dysplasia trichoodontoonychial type
Ectodermal dysplasia with natal teeth Turnpenny type
Ectodermal dysplasia, hidrotic, Christianson-Fourie type
EEC syndrome
EEM syndrome
Ehlers-Danlos syndrome, dysfibronectinemic type
Elastoderma
Elastosis perforans serpiginosa
Ellis-Van Creveld syndrome
Encephalocraniocutaneous lipomatosis
Eosinophilic pustular folliculitis
Epidermodysplasia verruciformis
Epidermolysa bullosa simplex with muscular dystrophy
Epidermolysis bullosa
Epidermolysis bullosa acquisita
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex, generalized
Epidermolysis bullosa simplex, localized
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa, lethal acantholytic
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Erdheim-Chester disease
Erythema elevatum diutinum
Erythema multiforme
Erythema nodosum, idiopathic
Erythrokeratoderma ''en cocardes''
Erythrokeratodermia variabilis et progressiva
Erythromelalgia
Erythropoietic uroporphyria associated with myeloid malignancy
Extranodal nasal NK/T cell lymphoma
Fabry disease
Facial ectodermal dysplasia
Familial atypical multiple mole melanoma syndrome - Not a rare disease
Familial cold autoinflammatory syndrome
Familial cutaneous collagenoma
Familial dermographism
Familial Dupuytren contracture - Not a rare disease
Familial dysautonomia
Familial joint instability syndrome
Familial multiple lipomatosis
Familial multiple trichodiscomas
Familial partial lipodystrophy associated with PLIN1 mutations - See Familial partial lipodystrophy
Familial partial lipodystrophy associated with PPARG mutations
Familial partial lipodystrophy due to AKT2 mutations - See Familial partial lipodystrophy
Familial partial lipodystrophy type 2
Familial partial lipodystrophy type Köbberling
Familial reactive perforating collagenosis
Familiar chronic mucocutaneous candidiasis - Not a rare disease
Fanconi anemia
Farber disease
Febrile Ulceronecrotic Mucha-Habermann disease
Fibrodysplasia ossificans progressiva
Flynn Aird syndrome
Focal dermal hypoplasia
Focal facial dermal dysplasia
Fox-Fordyce disease
Frontal fibrosing alopecia
Frontonasal dysplasia with alopecia and genital anomaly - See Frontonasal dysplasia
GAPO syndrome
Gardner syndrome
Gardner-Diamond syndrome
Gastrocutaneous syndrome
Gaucher disease perinatal lethal
Generalized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa
Generalized pustular psoriasis
Genuine diffuse phlebectasia
Geroderma osteodysplastica
Giant congenital nevus
Gingival fibromatosis with hypertrichosis
GM3 synthase deficiency
Gorlin Chaudhry Moss syndrome
Graham-Little-Piccardi-Lassueur syndrome
Granuloma annulare
Granulomatous rosacea
Granulomatous slack skin disease
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Grover's disease - Not a rare disease
Guttate psoriasis
Hailey-Hailey disease
Haim-Munk syndrome
Hair defect-photosensitivity-intellectual disability syndrome
Hairy elbows
Halal Setton Wang syndrome
Hallermann-Streiff syndrome
Halo nevus
Hard skin syndrome Parana type
Harlequin ichthyosis
Hartnup disease
Hennekam syndrome
Hepatoerythropoietic porphyria
Hereditary coproporphyria
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia type 2
Hereditary hemorrhagic telangiectasia type 3
Hereditary hemorrhagic telangiectasia type 4
Hereditary leiomyomatosis and renal cell cancer
Hereditary lymphedema type II
Hereditary mucoepithelial dysplasia
Hereditary pancreatitis
Hermansky Pudlak syndrome 2
Hidradenitis suppurativa - Not a rare disease
Histiocytosis-lymphadenopathy plus syndrome
Holocarboxylase synthetase deficiency
Hyaline fibromatosis syndrome
Hydroa vacciniforme
Hydroa vacciniforme, familial
Hyper-IgD syndrome
Hyperkeratosis lenticularis perstans
Hypermobile Ehlers-Danlos syndrome
Hypertrichosis lanuginosa, acquired
Hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia autosomal recessive
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
Hypomelanosis of Ito
Hypotrichosis simplex
Hypotrichosis-lymphedema-telangiectasia syndrome
Ichthyosis alopecia eclabion ectropion mental retardation
Ichthyosis bullosa of Siemens
Ichthyosis cheek eyebrow syndrome
Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis hystrix, Curth Macklin type
Ichthyosis lamellar 1
Ichthyosis lamellar, autosomal dominant
Ichthyosis prematurity syndrome
Ichthyosis tapered fingers midline groove up
Ichthyosis vulgaris
Ichthyosis, acquired
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Ichthyosis, mental retardation, dwarfism and renal impairment
Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
Incontinentia pigmenti
Infantile myofibromatosis
Inflammatory linear verrucous epidermal nevus
Iridogoniodysgenesis type 1
Isolated anterior cervical hypertrichosis
Johanson-Blizzard syndrome
Johnson neuroectodermal syndrome
Junctional epidermolysis bullosa generalized intermediate - See Epidermolysis bullosa
Junctional epidermolysis bullosa inversa - See Epidermolysis bullosa
Junctional epidermolysis bullosa, Herlitz type - See Epidermolysis bullosa
Juvenile dermatomyositis
Juvenile polyposis syndrome
Keratoderma palmoplantar deafness
Keratoderma palmoplantar spastic paralysis
Keratoderma palmoplantaris transgrediens
Keratolytic winter erythema
Keratosis follicularis dwarfism and cerebral atrophy
Keratosis follicularis spinulosa decalvans
Keratosis palmoplantaris striata 1
Keratosis palmoplantaris striata 3
KID syndrome
Kindler syndrome
Klippel-Trenaunay syndrome
Knuckle pads, leuconychia and sensorineural deafness
Kohlschutter Tonz syndrome
Kyphoscoliotic Ehlers-Danlos syndrome
Kyrle disease
Lacrimo-auriculo-dento-digital syndrome
Lamellar ichthyosis
Laryngoonychocutaneous syndrome - See Epidermolysis bullosa
Late-onset junctional epidermolysis bullosa - See Junctional epidermolysis bullosa
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Ledderhose disease
Legius syndrome
Lelis syndrome
LEOPARD syndrome
Leprechaunism
Leukoencephalopathy palmoplantar keratoderma
Leukonychia totalis
Lichen planopilaris
Lichen planus pemphigoides
Lichen planus pigmentosus
Lichen sclerosus
Limb-mammary syndrome
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
Linear and whorled nevoid hypermelanosis
Linear IgA disease
Linear lichen planus
Linear nevus sebaceous syndrome
Linear scleroderma
LIPE-related familial partial lipodystrophy - See Familial partial lipodystrophy
Lipedema - Not a rare disease
Lipodystrophy, familial partial, type 5 - See Familial partial lipodystrophy
Lipoid proteinosis of Urbach and Wiethe
Lissencephaly 2
Localized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa
Localized scleroderma
Loose anagen hair syndrome
Lupus erythematosus tumidus
Lymphedema and cerebral arteriovenous anomaly
Lymphedema-distichiasis syndrome
Lymphocytic infiltrate of Jessner
Lymphomatoid papulosis
Macules hereditary congenital hypopigmented and hyperpigmented
Maffucci syndrome
Majeed syndrome
Malignant Atrophic Papulosis
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Marie Unna congenital hypotrichosis
Marshall syndrome
McCune-Albright syndrome
Megalencephaly-capillary malformation syndrome
Meleda disease
Melkersson-Rosenthal syndrome
Menkes disease
Merkel cell carcinoma
Mevalonic aciduria
Microcystic lymphatic malformation
Microphthalmia with linear skin defects syndrome
Milroy disease
Monilethrix
Morphea
MPDU1-CDG (CDG-If)
MPI-CDG (CDG-Ib)
Muckle-Wells syndrome
Mucopolysaccharidosis type III
Mucous membrane pemphigoid
Muir-Torre syndrome
Multicentric reticulohistiocytosis
Multiple café-au-lait spots
Multiple fibrofolliculoma familial
Multiple sulfatase deficiency
Multiple symmetric lipomatosis
Musculocontractural Ehlers-Danlos syndrome
Naegeli syndrome
Nail-patella syndrome
Nakajo Nishimura syndrome
Naxos disease
Necrobiotic xanthogranuloma
Nelson syndrome
Neonatal Onset Multisystem Inflammatory disease
Neonatal progeroid syndrome
Nephrogenic Systemic Fibrosis
Nestor-guillermo progeria syndrome
Netherton syndrome
Neu Laxova syndrome
Neurocutaneous melanosis
Neurofibromatosis-Noonan syndrome
Nevoid basal cell carcinoma syndrome
Nevus comedonicus syndrome
Nevus of Ito
Nodular nonsuppurative panniculitis
Nonbullous congenital ichthyosiform erythroderma
Noonan syndrome
Noonan syndrome 1 - See Noonan syndrome
Noonan syndrome 2 - See Noonan syndrome
Noonan syndrome 3 - See Noonan syndrome
Noonan syndrome 4 - See Noonan syndrome
Noonan syndrome 5 - See Noonan syndrome
Noonan syndrome 6 - See Noonan syndrome
Noonan-like syndrome with loose anagen hair
Occipital horn syndrome
Oculocerebral syndrome with hypopigmentation
Oculocutaneous albinism type 1
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 2
Oculocutaneous albinism type 3
Oculodentodigital dysplasia
Oculoectodermal syndrome
Odonto onycho dysplasia with alopecia
Odontomicronychial dysplasia
Odontoonychodermal dysplasia
Odontotrichomelic syndrome
Oliver syndrome
Olmsted syndrome
Onychocytic matricoma
Onychodystrophy-anonychia
Orofaciodigital syndrome 1
Pachydermoperiostosis
Pachyonychia congenita
Palmoplantar keratoderma
Palmoplantar keratoderma-sclerodactyly syndrome
Papillon Lefevre syndrome
Parapsoriasis
Parkes Weber syndrome
Peeling skin syndrome
PEHO syndrome
Pemphigus vulgaris
Periodontal Ehlers-Danlos syndrome
Peutz-Jeghers syndrome
Piebaldism
Pigmented purpuric dermatosis
Pili annulati
Pili torti
Pili torti developmental delay neurological abnormalities
Pilodental dysplasia with refractive errors
Pilomatrixoma
Pinheiro Freire-Maia Miranda syndrome
Pityriasis lichenoides
Pityriasis lichenoides chronica
Pityriasis lichenoides et varioliformis acuta
Pityriasis rubra pilaris
PMM2-CDG (CDG-Ia)
Poikiloderma with neutropenia
Popliteal pterygium syndrome, Bartsocas-Papas type
Porokeratosis of Mibelli
Porokeratosis, disseminated superficial actinic 1
Porokeratosis, disseminated superficial actinic 2
Porphyria cutanea tarda
Pretibial epidermolysis bullosa
Primary cutaneous amyloidosis
Progeria
Progeroid short stature with pigmented nevi
Progeroid syndrome Petty type
Progestogen hypersensitivity
Progressive osseous heteroplasia
Prolidase deficiency
Proliferating trichilemmal cyst
Proteus syndrome
Proteus-like syndrome
Pruritic urticarial papules plaques of pregnancy
Pseudoainhum
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1C
Pseudopelade of Brocq
Pseudopseudohypoparathyroidism
Pseudoxanthoma elasticum
Punctate palmoplantar keratoderma type 2
Punctate palmoplantar keratoderma type I
Pustulosis palmaris et plantaris
Pyoderma gangrenosum
Pyogenic arthritis, pyoderma gangrenosum and acne
Pyogenic granuloma - Not a rare disease
Pyramidal molars-abnormal upper lip syndrome
Quinquaud folliculitis decalvans
Rabson-Mendenhall syndrome
Recessive dystrophic epidermolysis bullosa-generalized other
Red skin pigment anomaly of New Guinea
Refsum disease
Reynolds syndrome
Rhabdomyomatous mesenchymal hamartoma
Roch-Leri mesosomatous lipomatosis
Rombo syndrome
Rosai-Dorfman disease
SAPHO syndrome
Satoyoshi syndrome
Scalp defects postaxial polydactyly
Scalp ear nipple syndrome
SCARF syndrome
Schinzel Giedion syndrome
Schwannomatosis
Scleromyxedema
Seborrheic keratosis - Not a rare disease
Severe generalized recessive dystrophic epidermolysis bullosa
Sezary syndrome
SHORT syndrome
Sjogren-Larsson syndrome
Sjogren-Larsson-like syndrome
Slow-channel congenital myasthenic syndrome
Sneddon syndrome
Spinocerebellar ataxia 34
Spitz nevus
Spondylodysplastic Ehlers-Danlos syndrome
Spondyloepimetaphyseal dysplasia joint laxity
SRD5A3-CDG (CDG-Iq)
Steatocystoma multiplex
Steatocystoma multiplex with natal teeth
Stevens-Johnson syndrome/toxic epidermal necrolysis
Stiff skin syndrome
Stoll Alembik Finck syndrome
Sturge-Weber syndrome
Subcorneal pustular dermatosis
Swyer syndrome
Syringocystadenoma papilliferum
Systemic scleroderma
TARP syndrome
Taurodontia, absent teeth, sparse hair syndrome
Telfer Sugar Jaeger syndrome
Temple-Baraitser syndrome
Tietz syndrome
Transient bullous dermolysis of the newborn
Tricho-dento-osseous syndrome
Trichodental syndrome
Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
Trichorhinophalangeal syndrome type 1
Trichorhinophalangeal syndrome type 2
Trichorhinophalangeal syndrome type 3
Trichostasis spinulosa
Trichothiodystrophy
Tuberous sclerosis complex
Tumor necrosis factor receptor-associated periodic syndrome
Twenty-nail dystrophy
Tylosis with esophageal cancer
Tyrosinemia type 2
Ulerythema ophryogenesis
Uncombable hair syndrome
UV sensitive syndrome
Van Den Bosch syndrome
Variegate porphyria
Vascular Ehlers-Danlos syndrome
Verrucous nevus acanthokeratolytic
Vici syndrome
Vitiligo - Not a rare disease
Vohwinkel syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 3
Waardenburg syndrome type 4
Wells syndrome
Werner syndrome
Weyers acrofacial dysostosis
White sponge nevus of cannon
Wiskott Aldrich syndrome
Witkop syndrome
Woolly hair hypotrichosis everted lower lip and outstanding ears
Woolly hair syndrome
Wrinkly skin syndrome
Wyburn-Mason syndrome
X-linked congenital generalized hypertrichosis
X-linked dominant chondrodysplasia punctata 2
X-linked hypohidrotic ectodermal dysplasia
X-linked ichthyosis
X-linked intellectual disability - short stature – obesity
Xanthoma disseminatum
Xeroderma pigmentosum
Xeroderma pigmentosum, variant type
Yellow nail syndrome
Yemenite deaf-blind hypopigmentation syndrome
Zlotogora syndrome