domingo, 27 de enero de 2019

Skin Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Skin Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Skin Diseases

Hairy elbows 
Halal Setton Wang syndrome 
Hallermann-Streiff syndrome 
Halo nevi 
Hard skin syndrome Parana type 
Harlequin ichthyosis 
Hartnup disease 
Hay-Wells syndrome 
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 
IBIDS syndrome - See Trichothiodystrophy 
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 
Inflammatory linear verrucous epidermal nevus 
Iridogoniodysgenesis type 1 
Isolated anterior cervical hypertrichosis 
Johanson-Blizzard syndrome 
Johnson neuroectodermal syndrome 
Junctional epidermolysis bullosa inversa - See Epidermolysis bullosa 
Junctional epidermolysis bullosa, Herlitz type - See Epidermolysis bullosa 
Junctional epidermolysis bullosa, non-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 
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 due to peptidic growth factors deficiency 
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 
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 
Muckle-Wells syndrome 
Mucopolysaccharidosis type III 
Muir-Torre syndrome 
Multicentric reticulohistiocytosis 
Multiple familial trichoepithelioma 
Multiple familial trichoepithelioma 1 - See Multiple familial trichoepithelioma 
Multiple familial trichoepithelioma 2 - See Multiple familial trichoepithelioma 
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 
Orofaciodigital syndrome 1 
Pachyonychia congenita 
Palmoplantar keratoderma 
Palmoplantar keratoderma of Sybert 
Palmoplantar keratoderma, epidermolytic 
Palmoplantar keratoderma-sclerodactyly syndrome 
Papillon Lefevre syndrome 
Parkes Weber syndrome 
Peeling skin syndrome 
PEHO syndrome 
Pemphigus vulgaris 
Periodontal Ehlers-Danlos syndrome 
Peutz-Jeghers syndrome 
Pigmented purpuric dermatosis 
Pili annulati 
Pili torti 
Pili torti developmental delay neurological abnormalities 
Pilodental dysplasia with refractive errors 
Pinheiro Freire-Maia Miranda syndrome 
Pityriasis lichenoides 
Pityriasis lichenoides chronica 
Pityriasis lichenoides et varioliformis acuta 
Pityriasis rubra pilaris 
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 
Progeroid short stature with pigmented nevi 
Progeroid syndrome Petty type 
Progressive osseous heteroplasia 
Prolidase deficiency 
Proliferating trichilemmal cyst 
Proteus syndrome 
Proteus-like syndrome 
Pruritic urticarial papules plaques of pregnancy 
Pseudohypoparathyroidism type 1A 
Pseudohypoparathyroidism type 1C 
Pseudopelade of Brocq 
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 
Quinquaud's decalvans folliculitis 
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 
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 
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 
Tuberous sclerosis 
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 
Watson syndrome 
Wells syndrome 
Werner's 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 

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