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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Skin Diseases

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

Is Rare Condition? Disease Name
* Aagenaes syndrome
* Aarskog syndrome
* Abdominal chemodectomas with cutaneous angiolipomas
* Absence of fingerprints congenital milia
* Acanthosis nigricans
* Ackerman syndrome
* Acrodermatitis
* Acrodermatitis enteropathica
* Acrogeria, Gottron type
* Acrokeratoelastoidosis of Costa
* Acute febrile neutrophilic dermatosis
* Acute intermittent porphyria
* Adams Oliver syndrome
* Adiposis dolorosa
* ADULT syndrome
* Ainhum
* Alkaptonuria
* Alopecia epilepsy oligophrenia syndrome of Moynahan
* Alopecia, epilepsy, pyorrhea, mental subnormality
* Ambras syndrome
* Ameloonychohypohidrotic syndrome
* Amish infantile epilepsy syndrome
* Amyloidosis primary cutaneous
* Angioma serpiginosum, autosomal dominant
* Angioma serpiginosum, X-linked
* Anonychia onychodystrophy
* Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
* Antecubital pterygium
* Aplasia cutis congenita intestinal lymphangiectasia
* Aplasia cutis congenita of limbs recessive
* AREDYLD
* Arterial tortuosity syndrome
* Arthrogryposis and ectodermal dysplasia
* Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
* Ataxia telangiectasia
* Atrophoderma of Pierini and Pasini
* Atrophodermia vermiculata
*   Atypical mole syndrome
* Autoimmune progesterone dermatitis
* Autosomal dominant hyper IgE syndrome
* Bannayan-Riley-Ruvalcaba syndrome
* Barber Say syndrome
* Barraquer-Simons syndrome
* Basaran Yilmaz syndrome
* Bazex-Dupre-Christol syndrome
* Becker nevus syndrome
* Becker's nevus
* Behcet's disease
* Benign eccrine spiradenoma
* Birt-Hogg-Dube syndrome
* Bjornstad syndrome
* Blau 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
* Cafe au lait spots, multiple
* CAHMR syndrome
* Campomelia Cumming type
* Candidiasis familial chronic mucocutaneous, autosomal recessive
* Cantu syndrome
* Cardiofaciocutaneous syndrome
* Cardiomyopathy dilated with woolly hair and keratoderma
* Cartilage-hair hypoplasia
* Cataract, alopecia, sclerodactyly
* 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
* CHAND syndrome
* Chediak-Higashi syndrome
* Cheilitis glandularis
* CHILD syndrome
* Chondrodysplasia punctata 2 X-linked dominant
* Choreoacanthocytosis
* Chromhidrosis
* Chronic granulomatous disease
* Chronic recurrent multifocal osteomyelitis
* Cicatricial pemphigoid
* CLOVES syndrome
* Cockayne syndrome type I
* Cockayne syndrome type II
* Cockayne syndrome type III
* Congenital disorder of glycosylation type 1B
* Congenital generalized lipodystrophy type 2
* Congenital porphyria
* Corneodermatoosseous syndrome
* Corticosteroid-sensitive aseptic abscesses
* Costello syndrome
* Cowden syndrome
* Crandall syndrome
* Cranioectodermal dysplasia
* Cronkhite-Canada disease
* Cutaneous polyarteritis nodosa
* 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
* Deficiency of interleukin-1 receptor antagonist
* Degos 'en cocarde' erythrokeratoderma
* Degos disease
* Dermal eccrine cylindroma
* Dermatitis herpetiformis familial
* Dermatofibroma
* Dermatofibrosarcoma protuberans
* Dermatomyositis
* Dermatoosteolysis Kirghizian type
* Dermatopathia pigmentosa reticularis
* Dermochondrocorneal dystrophy of François
* Dermoodontodysplasia
* Diffuse dermal angiomatosis
* Diffuse scleroderma
* Diffuse systemic sclerosis
* Dowling-Degos disease
* Dubowitz syndrome
* Duhring Brocq disease
* Dykes Markes Harper syndrome
* Dyschromatosis symmetrica hereditaria 1
* Dyskeratosis congenita
* Dyskeratosis congenita autosomal dominant
* Dystrophic epidermolysis bullosa
* Ectodermal dysplasia 2, hidrotic
* Ectodermal dysplasia skin fragility syndrome
* Ectodermal dysplasia trichoodontoonychial type
* Ectodermal dysplasia with natal teeth Turnpenny type
* Ectodermal dysplasia, hidrotic, Christianson-Fourie type
* EEM syndrome
* Ehlers-Danlos syndrome arthrochalasia type
* Ehlers-Danlos syndrome dermatosparaxis type
* Ehlers-Danlos syndrome dysfibronectinemic type
* Ehlers-Danlos syndrome hypermobility type
* Ehlers-Danlos syndrome kyphoscoliotic type
* Ehlers-Danlos syndrome progeroid type
* Ehlers-Danlos syndrome type 5
* Ehlers-Danlos syndrome vascular type
* Elastosis perforans serpiginosa
* Ellis-Van Creveld syndrome
* 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, late-onset localized junctional, with mental retardation
* Epidermolysis bullosa, lethal acantholytic
* Epidermolysis bullosa, pretibial
* Epidermolytic hyperkeratosis
* Erdheim-Chester disease
* Erythema elevatum diutinum
* Erythema multiforme
* Erythema nodosum, idiopathic
* Erythroderma lethal congenital
* Erythrokeratodermia variabilis et progressiva
* Erythropoietic protoporphyria
* Fabry disease
* Facial ectodermal dysplasia
* Familial cold autoinflammatory syndrome
* Familial cylindromatosis
* Familial dermographism
* Familial dysautonomia
* Familial multiple trichodiscomas
* Fanconi anemia
* Farber's disease
* Febrile Ulceronecrotic Mucha-Habermann disease
* Flynn Aird syndrome
* Focal dermal hypoplasia
* Focal facial dermal dysplasia
* Fox-Fordyce disease
* GAPO syndrome
* Gardner syndrome
* Gastrocutaneous syndrome
* Gaucher disease perinatal lethal
* Generalized dominant dystrophic epidermolysis bullosa
* Geroderma osteodysplastica
* Giant congenital nevus
* Gingival fibromatosis with hypertrichosis
* Gorlin Chaudhry Moss syndrome
* Granuloma annulare
* Granulomatous rosacea
* Griscelli syndrome type 1
* Griscelli syndrome type 2
* Griscelli syndrome type 3
* Guttate psoriasis
* Hailey-Hailey disease
* Haim-Munk syndrome
* Hair defect with photosensitivity and mental retardation
* Hairy elbows
* Halal Setton Wang syndrome
* Halo nevi
* Hard skin syndrome Parana type
* Hartnup disease
* Hay-Wells syndrome
* Hennekam syndrome
* Hepatoerythropoietic porphyria
* Hereditary coproporphyria
* Hereditary hemorrhagic telangiectasia
* Hereditary lymphedema type II
* Hereditary mucoepithelial dysplasia
* Hereditary pancreatitis
* Hermansky Pudlak syndrome 2
*   Hidradenitis suppurativa
* Hydroa vacciniforme
* Hydroa vacciniforme, familial
* Hyper-IgD syndrome
* Hyperkeratosis lenticularis perstans
* Hyperkeratosis palmoplantar localized acanthokeratolytic
* Hyperkeratosis palmoplantar localized epidermolytic
* Hypertrichosis congenital generalized X-linked
* Hypertrichosis lanuginosa, acquired
* Hypertrichosis, anterior cervical
* Hypohidrotic ectodermal dysplasia
* Hypohidrotic ectodermal dysplasia autosomal recessive
* Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
* Hypomelanosis of Ito
* Hypotrichosis simplex
* IBIDS syndrome
* Ichthyosis alopecia eclabion ectropion mental retardation
* Ichthyosis bullosa of Siemens
* Ichthyosis cheek eyebrow syndrome
* Ichthyosis follicularis atrichia photophobia syndrome
* Ichthyosis hystrix gravior
* 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
* Iridogoniodysgenesis type1
* Johanson Blizzard syndrome
* Johnson neuroectodermal syndrome
* Joint laxity, familial
* Junctional epidermolysis bullosa inversa
* Junctional epidermolysis bullosa, Herlitz type
* Junctional epidermolysis bullosa, non-Herlitz type
* Juvenile dermatomyositis
* Juvenile hyaline fibromatosis
* Juvenile polyposis syndrome
* Juvenile Scleroderma
* Keratoderma palmoplantar deafness
* Keratoderma palmoplantar spastic paralysis
* Keratoderma palmoplantaris transgrediens
* Keratolytic winter erythema
* Keratosis follicularis spinulosa decalvans
* Keratosis palmoplantaris papulosa
* Keratosis palmoplantaris striata 1
* Keratosis palmoplantaris striata 3
* Keratosis, seborrheic
* KID syndrome
* Kindler syndrome
* Klippel-Trenaunay syndrome
* Kohlschutter Tonz syndrome
* Kyrle disease
* Lacrimo-auriculo-dento-digital syndrome
* Lamellar ichthyosis
* Laryngoonychocutaneous syndrome
* Lassueur-Graham-Little syndrome
* Ledderhose disease
* Legius syndrome
* Lelis syndrome
* LEOPARD syndrome
* Leprechaunism
* Leukoencephalopathy palmoplantar keratoderma
* Leukonychia totalis
* Lichen planus follicularis
* Lichen planus pigmentosus
* Lichen sclerosus
* Limb-mammary syndrome
* Limited scleroderma
* Linear and whorled nevoid hypermelanosis
* Linear IgA disease
* Linear nevus sebaceous syndrome
* Linear scleroderma
* Lipodystrophy, familial partial, type 2
* Lipoid proteinosis of Urbach and Wiethe
* Lissencephaly 2
* Loose anagen hair syndrome
* Lymphedema-distichiasis syndrome
* Macrocephaly-capillary malformation
* Macules hereditary congenital hypopigmented and hyperpigmented
* Madelung disease
* Maffucci syndrome
* Majeed syndrome
* Mandibuloacral dysplasia with type A lipodystrophy
* Mandibuloacral dysplasia with type B lipodystrophy
* Marshall syndrome
* Meleda disease
* Melkersson-Rosenthal syndrome
* Menkes disease
* Michelin tire baby syndrome
* Microphthalmia syndromic 7
* Monilethrix
* Morphea
* Muckle-Wells syndrome
* Muir-Torre syndrome
* Multiple familial trichoepithelioma 1
* Multiple familial trichoepithelioma 2
* Multiple fibrofolliculoma familial
* Multiple sulfatase deficiency
* Myxoma-spotty pigmentation-endocrine overactivity
* Naegeli syndrome
* Nail patella syndrome
* Naxos disease
* Necrobiotic xanthogranuloma
* Nelson syndrome
* Neonatal progeroid syndrome
* Nephrogenic Systemic Fibrosis
* Netherton syndrome
* Neu Laxova syndrome
* Neurocutaneous melanosis
* Neurofibromatosis type 6
* Neurofibromatosis-Noonan syndrome
* Nevo syndrome
* Nevoid basal cell carcinoma syndrome
* Nevus of Ito
* Nodular nonsuppurative panniculitis
* Noonan syndrome
* Noonan syndrome 1
* 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
* Olmsted syndrome
* Orofaciodigital syndrome 1
* Pachydermoperiostosis
* Pachyonychia congenita
* Palmoplantar keratoderma
* Palmoplantar keratoderma of Sybert
* Palmoplantar keratoderma, epidermolytic
* Papillon Lefevre syndrome
* Parapsoriasis
* Parkes Weber syndrome
* Peeling skin syndrome
* PEHO syndrome
* Pemphigus vulgaris
* Periodic fever, familial, autosomal dominant
* Peutz Jeghers syndrome
* PIBIDS syndrome
* Picardi-Lassueur-Little syndrome
* Piebaldism
* Pigmented purpuric eruption
* 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
* Poikiloderma with neutropenia
* Popliteal pterygium syndrome lethal type
* Porokeratosis of Mibelli
* Porokeratosis plantaris palmaris et disseminata
* Porokeratosis, disseminated superficial actinic 1
* Porokeratosis, disseminated superficial actinic 2
* Porphyria cutanea tarda
* Progeria
* Progeroid short stature with pigmented nevi
* Progeroid syndrome Petty type
* Progressive osseous heteroplasia
* Prolerating trichilemmal cyst
* Prolidase deficiency
* Proteus syndrome
* Pruritic urticarial papules plaques of pregnancy
* Pseudoainhum
* Pseudohypoparathyroidism type 1A
* Pseudohypoparathyroidism type 1C
* Pseudopelade of Brocq
* Pseudopseudohypoparathyroidism
* Pseudoxanthoma elasticum
* Pyoderma gangrenosum
* Pyogenic arthritis, pyoderma gangrenosum and acne
*   Pyogenic granuloma
* Quinquaud's decalvans folliculitis
* Rabson-Mendenhall syndrome
* Red skin pigment anomaly of New Guinea
* Refsum disease
* Reynolds syndrome
* Rhabdomyomatous mesenchymal hamartoma
* Roch-Leri mesosomatous lipomatosis
* Rombo syndrome
* SAPHO syndrome
* Scalp defects postaxial polydactyly
* Scalp ear nipple syndrome
* SCARF syndrome
* Schwannomatosis
* Scleromyxedema
* Sclerotylosis
* Senter syndrome
* Severe generalized recessive dystrophic epidermolysis bullosa
* Sezary syndrome
* Sine scleroderma
* Sjogren-Larsson syndrome
* Sjogren-Larsson-like syndrome
* Slow-channel congenital myasthenic syndrome
* Sneddon syndrome
* Spinocerebellar ataxia 34
* Spitz nevus
* Spondyloepimetaphyseal dysplasia joint laxity
* Steatocystoma multiplex
* Steatocystoma multiplex with natal teeth
* Stevens-Johnson syndrome
* Stiff skin syndrome
* Sturge-Weber syndrome
* Swyer syndrome
* Syringocystadenoma papilliferum
* Systemic scleroderma
* TARP syndrome
* Taurodontia absent teeth sparse hair
* Telfer Sugar Jaeger syndrome
* Tietz syndrome
* Transient acantholytic dermatosis
* 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 2
* Trichostasis spinulosa
* Tuberous sclerosis
* Twenty-nail dystrophy
* Tyrosinemia type 2
* Uncombable hair syndrome
* UV sensitive syndrome
* Van Den Bosch syndrome
* Variegate porphyria
* Verrucous nevus acanthokeratolytic
*   Vitiligo
* Vohwinkel syndrome
* Waardenburg syndrome type 1
* Waardenburg syndrome type 2
* Waardenburg syndrome type 3
* Waardenburg syndrome type 4
* Watson syndrome
* Wells syndrome
* Werner's syndrome
* Weyers acrofacial dysostosis
* White sponge nevus of cannon
* Wiskott Aldrich syndrome
* Witkop syndrome
* Woolly hair syndrome
* Wrinkly skin syndrome
* X-linked hypohidrotic ectodermal dysplasia
* X-linked ichthyosis
* Xeroderma pigmentosum
* Xeroderma pigmentosum, type 9
* Xeroderma pigmentosum, variant type
* Yellow nail syndrome
* Yemenite deaf-blind hypopigmentation syndrome