Mapping of Health Care Providers
for People with Rare Diseases

In the following you will find the diseases that are treated in this facility:
ADULT syndrome ALDH18A1-related De Barsy syndrome ANE syndrome AREDYLD syndrome Absence of fingerprints-congenital milia syndrome Acanthokeratolytic verrucous nevus Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome Acquired epidermolysis bullosa Acquired ichthyosis Acral dystrophic epidermolysis bullosa Acral peeling skin syndrome Acral self-healing collodion baby Acrodermatitis continua of Hallopeau Acrofacial dysostosis, Weyers type Acrogeria Acrokeratoelastoidosis of Costa Acrokeratosis verruciformis of Hopf Acroosteolysis-keloid-like lesions-premature aging syndrome Acute hepatic porphyria Acute intermittent porphyria Adult T-cell leukemia/lymphoma Aggressive primary cutaneous B-cell lymphoma Aggressive primary cutaneous T-cell lymphoma Aggressive systemic mastocytosis Albinism-deafness syndrome Aleukemic mast cell leukemia Alopecia Alopecia antibody deficiency Alopecia totalis Alopecia universalis Alopecia-contractures-dwarfism-intellectual disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-intellectual disability syndrome Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome Amelocerebrohypohidrotic syndrome Ameloonychohypohidrotic syndrome Angioosteohypertrophic syndrome Angora hair nevus Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Annular epidermolytic ichthyosis Anonychia congenita totalis Anonychia with flexural pigmentation Anonychia-onychodystrophy syndrome Antecubital pterygium syndrome Aplasia cutis congenita Aplasia cutis congenita-intestinal lymphangiectasia syndrome Aplasia cutis-myopia syndrome Arterial tortuosity syndrome Ataxia-telangiectasia Atrichia with papular lesions Atrophoderma vermiculata Atypical Werner syndrome Autoimmune bullous skin disease Autosomal dominant cutis laxa Autosomal dominant deafness-onychodystrophy syndrome Autosomal dominant diffuse mutilating palmoplantar keratoderma Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature Autosomal dominant epidermolytic ichthyosis Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Autosomal dominant hypohidrotic ectodermal dysplasia Autosomal dominant isolated diffuse palmoplantar keratoderma Autosomal dominant multiple pterygium syndrome Autosomal dominant palmoplantar keratoderma and congenital alopecia Autosomal dominant trichoodontoonychodysplasia-syndactyly Autosomal erythropoietic protoporphyria Autosomal ichthyosis syndrome Autosomal ichthyosis syndrome with fatal disease course Autosomal ichthyosis syndrome with other associated signs Autosomal ichthyosis syndrome with prominent hair abnormalities Autosomal ichthyosis syndrome with prominent neurologic signs Autosomal recessive congenital ichthyosis Autosomal recessive cutis laxa type 1 Autosomal recessive cutis laxa type 2 Autosomal recessive cutis laxa type 2A Autosomal recessive cutis laxa type 2B Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature Autosomal recessive disease with focal palmoplantar keratoderma as a major feature Autosomal recessive hypohidrotic ectodermal dysplasia Autosomal recessive isolated diffuse palmoplantar keratoderma Autosomal recessive multiple pterygium syndrome Autosomal recessive nail dysplasia Autosomal recessive palmoplantar keratoderma and congenital alopecia Bannayan-Riley-Ruvalcaba syndrome Barber-Say syndrome Bartsocas-Papas syndrome Basal epidermolysis bullosa simplex Bathing suit ichthyosis Bazex-Dupré-Christol syndrome Becker nevus syndrome Birt-Hogg-Dubé syndrome Björnstad syndrome Blepharo-cheilo-odontic syndrome Bloom syndrome Blue rubber bleb nevus Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Brain-lung-thyroid syndrome Brittle cornea syndrome Brooke-Spiegler syndrome Bullous diffuse cutaneous mastocytosis Bullous dystrophy, macular type Bullous pemphigoid Buschke-Ollendorff syndrome Böök syndrome CEDNIK syndrome CHILD syndrome CHIME syndrome CLAPO syndrome CLOVES syndrome COFS syndrome CREST syndrome Calcifying aponeurotic fibroma Cardiofaciocutaneous syndrome Carney complex Cartilage-hair hypoplasia Carvajal syndrome Cataract-hypertrichosis-intellectual disability syndrome Centripetalis recessive dystrophic epidermolysis bullosa Cerebellar ataxia-ectodermal dysplasia syndrome Cervical hypertrichosis-peripheral neuropathy syndrome Chilblain lupus Chondroectodermal dysplasia with night blindness Choroidal atrophy-alopecia syndrome Chronic cutaneous lupus erythematosus Chronic hepatic porphyria Chédiak-Higashi syndrome Classic mast cell leukemia Cleft lip/palate-ectodermal dysplasia syndrome Cockayne syndrome Cockayne syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Conductive deafness-ptosis-skeletal anomalies syndrome Congenital erythropoietic porphyria Congenital generalized hypertrichosis, Ambras type Congenital lethal erythroderma Congenital non-bullous ichthyosiform erythroderma Congenital panfollicular nevus Congenital reticular ichthyosiform erythroderma Congenital smooth muscle hamartoma Contractures-ectodermal dysplasia-cleft lip/palate syndrome Cooks syndrome Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Corneodermatoosseous syndrome Cowden syndrome Crandall syndrome Cranioectodermal dysplasia Craniofaciofrontodigital syndrome Cronkhite-Canada syndrome Curly hair-acral keratoderma-caries syndrome Cutaneous mastocytoma Cutaneous mastocytosis Cutaneous neuroendocrine carcinoma Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Cutis laxa Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Cutis marmorata telangiectatica congenita Cystic hygroma DOORS syndrome Dahlberg-Borer-Newcomer syndrome Darier disease De Barsy syndrome Deaf blind hypopigmentation syndrome, Yemenite type Deafness-enamel hypoplasia-nail defects syndrome Deafness-onychodystrophy syndrome Dermatitis herpetiformis Dermatofibrosarcoma protuberans Dermatomyositis Dermatoosteolysis, Kirghizian type Dermatopathia pigmentosa reticularis Dermochondrocorneal dystrophy Dermoodontodysplasia Dermotrichic syndrome Didymosis aplasticosebacea Diffuse cutaneous mastocytosis Diffuse cutaneous systemic sclerosis Diffuse lymphatic malformation Diffuse palmoplantar keratoderma Diffuse palmoplantar keratoderma with painful fissures Diffuse palmoplantar keratoderma-acrocyanosis syndrome Discoid lupus erythematosus Disease with diffuse palmoplantar keratoderma as a major feature Disease with focal palmoplantar keratoderma as a major feature Disease with punctate palmoplantar keratoderma as a major feature Disseminated superficial actinic porokeratosis Dominant dystrophic epidermolysis bullosa, nails only Dowling-Degos disease Dubowitz syndrome Dyschromatosis symmetrica hereditaria Dyschromatosis universalis hereditaria Dyskeratosis congenita Dystrophic epidermolysis bullosa Dystrophic epidermolysis bullosa pruriginosa EEC syndrome EEC syndrome and related syndrome EEM syndrome Ectodermal dysplasia syndrome Ectodermal dysplasia with natal teeth, Turnpenny type Ectodermal dysplasia, trichoodontoonychial type Ectodermal dysplasia-blindness syndrome Ectodermal dysplasia-cutaneous syndactyly syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasia-sensorineural deafness syndrome Ectodermal dysplasia-syndactyly syndrome Ehlers-Danlos syndrome Ehlers-Danlos syndrome due to tenascin-X deficiency Ehlers-Danlos syndrome type 1 Ehlers-Danlos syndrome type 2 Ehlers-Danlos syndrome type 7A Ehlers-Danlos syndrome type 7B Ehlers-Danlos syndrome with periventricular heterotopia Ehlers-Danlos syndrome, arthrochalasis type Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome, dermatosparaxis type Ehlers-Danlos syndrome, fibronectinemic type Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome, kyphoscoliotic type Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndrome, progeroid type Ehlers-Danlos syndrome, spondylocheirodysplastic type Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome, vascular-like type Ehlers-Danlos/osteogenesis imperfecta syndrome Ellis Van Creveld syndrome Encephalocraniocutaneous lipomatosis Epidermal nevus syndrome Epidermolysis bullosa simplex Epidermolysis bullosa simplex due to BP230 deficiency Epidermolysis bullosa simplex due to exophilin 5 deficiency Epidermolysis bullosa simplex due to plakophilin deficiency Epidermolysis bullosa simplex superficialis Epidermolysis bullosa simplex with anodontia/hypodontia Epidermolysis bullosa simplex with circinate migratory erythema Epidermolysis bullosa simplex with mottled pigmentation Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex, autosomal recessive K14 Epidermolysis bullosa simplex, generalized intermediate Epidermolysis bullosa simplex, generalized severe Epidermolytic palmoplantar keratoderma Erythema palmare hereditarium Erythrokeratoderma ''en cocardes'' Erythrokeratoderma variabilis progressiva Erythrokeratodermia variabilis Erythromelalgia Erythropoietic uroporphyria associated with myeloid malignancy Exfoliative ichthyosis Extracutaneous mastocytoma Extranodal nasal NK/T cell lymphoma FLOTCH syndrome Familial anetoderma Familial angiolipomatosis Familial articular hypermobility syndrome Familial atypical multiple mole melanoma syndrome Familial benign chronic pemphigus Familial cold urticaria Familial cutaneous collagenoma Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Familial cylindromatosis Familial generalized lentiginosis Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome Familial isolated trichomegaly Familial keratoacanthoma Familial melanoma Familial multiple fibrofolliculoma Familial multiple lipomatosis Familial multiple nevi flammei Familial multiple trichoepithelioma Familial normophosphatemic tumoral calcinosis Familial primary localized cutaneous amyloidosis Familial progressive hyper- and hypopigmentation Familial progressive hyperpigmentation Familial reactive perforating collagenosis Familial tumoral calcinosis Fanconi anemia Farber disease Fibrosarcoma Flynn-Aird syndrome Focal acral hyperkeratosis Focal dermal hypoplasia Focal facial dermal dysplasia Focal facial dermal dysplasia type I Focal facial dermal dysplasia type II Focal facial dermal dysplasia type III Focal facial dermal dysplasia type IV Focal palmoplantar and gingival keratoderma Focal palmoplantar keratoderma Focal palmoplantar keratoderma with joint keratoses Follicular atrophoderma-basal cell carcinoma Fried's tooth and nail syndrome Frontonasal dysplasia with alopecia and genital anomaly GAPO syndrome Gardner syndrome Generalized basaloid follicular hamartoma syndrome Generalized dominant dystrophic epidermolysis bullosa Generalized eruptive keratoacanthoma Generalized peeling skin syndrome Generalized pustular psoriasis Genetic acrokeratoderma Genetic dermis elastic tissue disorder Genetic epidermal appendage anomaly Genetic epidermal disorder Genetic erythrokeratoderma Genetic hair anomaly Genetic hyperpigmentation of the skin Genetic hypopigmentation of the skin Genetic mixed dermis disorder Genetic nail anomaly Genetic photodermatosis Genetic pigmentation anomaly of the skin Genetic porokeratosis Genetic sebaceous gland anomaly Genetic skin vascular disorder Genetic subcutaneous tissue disorder Geroderma osteodysplastica Gingival fibromatosis-hypertrichosis syndrome Gorlin syndrome Gorlin-Chaudhry-Moss syndrome Graham Little-Piccardi-Lassueur syndrome Granulomatous slack skin Griscelli disease Griscelli disease type 1 Griscelli disease type 2 Griscelli disease type 3 H syndrome Haim-Munk syndrome Hair defect-photosensitivity-intellectual disability syndrome Hallermann-Streiff syndrome Harlequin ichthyosis Hartnup disease Hemihyperplasia-multiple lipomatosis syndrome Hepatoerythropoietic porphyria Hereditary acrokeratotic poikiloderma of Kindler-Weary Hereditary acrokeratotic poikiloderma, Weary type Hereditary coproporphyria Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Hereditary hypotrichosis with recurrent skin vesicles Hereditary leiomyomatosis and renal cell cancer Hereditary painful callosities Hereditary palmoplantar keratoderma Hereditary palmoplantar keratoderma, Gamborg-Nielsen type Hereditary poikiloderma Hereditary sclerosing poikiloderma, Weary type Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome type 7 Hermansky-Pudlak syndrome type 8 Hermansky-Pudlak syndrome type 9 Hermansky-Pudlak syndrome with neutropenia Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome without pulmonary fibrosis Herpetiform pemphigus Hidrotic ectodermal dysplasia Hidrotic ectodermal dysplasia, Christianson-Fourie type Hidrotic ectodermal dysplasia, Halal type Hutchinson-Gilford progeria syndrome Hyperkeratosis lenticularis perstans Hyperkeratosis-hyperpigmentation syndrome Hypertrichosis Hypertrichosis cubiti Hypertrichosis lanuginosa congenita Hypertrichosis-acromegaloid facial appearance syndrome Hypertrophic or verrucous lupus erythematosus Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome Hypodontia-dysplasia of nails syndrome Hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia with immunodeficiency Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypotrichosis simplex Hypotrichosis simplex of the scalp Hypotrichosis with juvenile macular degeneration Hypotrichosis-deafness syndrome Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Ichthyosis Ichthyosis follicularis-alopecia-photophobia syndrome Ichthyosis hystrix gravior Ichthyosis hystrix of Curth-Macklin Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Idiopathic trachyonychia Incontinentia pigmenti Indolent primary cutaneous B-cell lymphoma Indolent primary cutaneous T-cell lymphoma Indolent systemic mastocytosis Infantile digital fibromatosis Infantile myofibromatosis Inflammatory linear verrucous epidermal nevus Inherited epidermolysis bullosa Inherited ichthyosis Inherited ichthyosis syndromic form Inherited non-syndromic ichthyosis Isolated anterior cervical hypertrichosis Isolated bone marrow mastocytosis Isolated congenital anonychia Isolated congenital digital clubbing Isolated congenital onychodysplasia Isolated diffuse palmoplantar keratoderma Isolated focal palmoplantar keratoderma Isolated hair shaft abnormality Isolated nail anomaly Isolated punctate palmoplantar keratoderma Ito hypomelanosis Johanson-Blizzard syndrome Johnson neuroectodermal syndrome Junctional epidermolysis bullosa Junctional epidermolysis bullosa inversa Junctional epidermolysis bullosa, generalized intermediate Junctional epidermolysis bullosa, generalized severe Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa-pyloric atresia syndrome Juvenile hyaline fibromatosis Juvenile xanthogranuloma KID syndrome Kein Name gefunden Keratinopathic ichthyosis Keratoderma hereditarium mutilans with ichthyosis Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis follicularis-dwarfism-cerebral atrophy syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis palmaris et plantaris-clinodactyly syndrome Keratosis pilaris atrophicans Kindler syndrome Klippel-Trénaunay syndrome Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome LMNA-related cardiocutaneous progeria syndrome LOC syndrome LUMBAR syndrome Lacrimoauriculodentodigital syndrome Lamellar ichthyosis Large congenital melanocytic nevus Late-onset junctional epidermolysis bullosa Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Ledderhose disease Legius syndrome Lelis syndrome Lethal acantholytic epidermolysis bullosa Leukoencephalopathy-palmoplantar keratoderma syndrome Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Leukonychia totalis Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome Limb-mammary syndrome Limited cutaneous systemic sclerosis Limited systemic sclerosis Linear IgA dermatosis Linear and whorled nevoid hypermelanosis Linear atrophoderma of Moulin Linear nevus sebaceus syndrome Linear verrucous nevus syndrome Lipedema Lipoid proteinosis Localized epidermolysis bullosa simplex Localized junctional epidermolysis bullosa, non-Herlitz type Loose anagen syndrome Lupus erythematosus panniculitis Lupus erythematosus tumidus Lymphedema Lymphedema-distichiasis syndrome Lymphoadenopathic mastocytosis with eosinophilia MEDNIK syndrome Macrocystic lymphatic malformation Maculopapular cutaneous mastocytosis Maffucci syndrome Mal de Meleda Malignant atrophic papulosis Malignant melanoma of the mucosa Mandibular hypoplasia-deafness-progeroid syndrome Marginal papular palmoplantar keratoderma Marie Unna hereditary hypotrichosis Marshall syndrome Mast cell leukemia Mast cell sarcoma Mastocytosis McCune-Albright syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Meige disease Microcystic lymphatic malformation Microphthalmia with linear skin defects syndrome Milroy disease Minimal pigment oculocutaneous albinism type 1 Monilethrix Muckle-Wells syndrome Mucous membrane pemphigoid Muir-Torre syndrome Multiple benign circumferential skin creases on limbs Multiple self-healing squamous epithelioma Multiple symmetric lipomatosis Mycosis fungoides and variants NEVADA syndrome Naegeli-Franceschetti-Jadassohn syndrome Nail-patella syndrome Naxos disease Neonatal inflammatory skin and bowel disease Nestor-Guillermo progeria syndrome Netherton syndrome Neurocutaneous melanocytosis Neurofibromatosis type 1 Neurofibromatosis type 2 Neurofibromatosis type 3 Nevus comedonicus syndrome Nevus of Ito Nevus of Ota Nodular urticaria pigmentosa Non-epidermolytic palmoplantar keratoderma Non-hereditary congenital primary lymphedema Non-hereditary late-onset primary lymphedema Noonan syndrome-like disorder with loose anagen hair Occipital horn syndrome Oculocerebral hypopigmentation syndrome, Cross type Oculocutaneous albinism Oculocutaneous albinism type 1 Oculocutaneous albinism type 1A Oculocutaneous albinism type 1B Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism type 4 Oculocutaneous albinism type 5 Oculocutaneous albinism type 6 Oculocutaneous albinism type 7 Oculodentodigital dysplasia Oculoosteocutaneous syndrome Oculotrichodysplasia Odonto-onycho dysplasia-alopecia syndrome Odonto-onycho-dermal dysplasia Odonto-tricho-ungual-digito-palmar syndrome Odontomicronychial dysplasia Odontotrichomelic syndrome Oley syndrome Onychocytic matricoma Onychomatricoma Orofaciodigital syndrome type 1 Osteopathia striata-pigmentary dermopathy-white forelock syndrome Other genetic epidermal disease PENS syndrome PTEN hamartoma tumor syndrome PYCR1-related De Barsy syndrome Pachydermoperiostosis Pachyonychia congenita Palmoplantar keratoderma, Nagashima type Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Palmoplantar keratoderma-deafness syndrome Palmoplantar keratoderma-esophageal carcinoma syndrome Palmoplantar keratoderma-sclerodactyly syndrome Palmoplantar keratoderma-spastic paralysis syndrome Palpebral sebaceous gland tumor Papillon-Lefèvre syndrome Parana hard skin syndrome Paraneoplastic pemphigus Parkes Weber syndrome Peeling skin syndrome Pellagra-like skin rash-neurological manifestations syndrome Pemphigoid gestationis Pemphigus erythematosus Pemphigus foliaceus Pemphigus vegetans Pemphigus vulgaris Peutz-Jeghers syndrome Phakomatosis cesioflammea Phakomatosis cesiomarmorata Phakomatosis pigmentokeratotica Phakomatosis pigmentovascularis Phakomatosis spilorosea Piebald trait-neurologic defects syndrome Piebaldism Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome Pili bifurcati Pili gemini Pili torti Pili torti-developmental delay-neurological abnormalities syndrome Pili torti-onychodysplasia syndrome Pilodental dysplasia-refractive errors syndrome Pilomatrixoma Pityriasis rubra pilaris Plaque-form urticaria pigmentosa Poikiloderma with neutropenia Porokeratosis of Mibelli Porokeratosis plantaris palmaris et disseminata Porokeratotic eccrine ostial and dermal duct nevus Porphyria Porphyria cutanea tarda Porphyria due to ALA dehydratase deficiency Porphyria variegata Premature aging Pretibial dystrophic epidermolysis bullosa Primary cutaneous B-cell lymphoma Primary cutaneous CD30+ T-cell lymphoproliferative disease Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma Primary cutaneous T-cell lymphoma Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma Primary cutaneous diffuse large B-cell lymphoma, leg type Primary cutaneous follicle center lymphoma Primary cutaneous gamma/delta-positive T-cell lymphoma Primary cutaneous lymphoma Primary cutaneous marginal zone B-cell lymphoma Primary cutaneous peripheral T-cell lymphoma not otherwise specified Primary cutis verticis gyrata Primary lymphedema Primary non-essential cutis verticis gyrata Progeria-short stature-pigmented nevi syndrome Progeroid syndrome, Petty type Progressive osseous heteroplasia Progressive symmetric erythrokeratodermia Proliferating trichilemmal cyst Proteus syndrome Proteus-like syndrome Pseudoxanthoma elasticum Pseudoxanthomatous diffuse cutaneous mastocytosis Punctate palmoplantar keratoderma Punctate palmoplantar keratoderma type 1 Punctate palmoplantar keratoderma type 2 Pure hair and nail ectodermal dysplasia Pustulosis palmaris et plantaris Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome Pyogenic arthritis-pyoderma gangrenosum-acne syndrome Pyramidal molars-abnormal upper lip syndrome RIN2 syndrome Rare cutaneous lupus erythematosus Rare genetic skin disease Rare lymphatic malformation Rare nail tumor Rare nevus Rare skin tumor or hamartoma Rare systemic or rheumatologic disease Recessive X-linked ichthyosis Recessive aplasia cutis congenita of limbs Recessive dystrophic epidermolysis bullosa inversa Recessive dystrophic epidermolysis bullosa, generalized intermediate Reticulate acropigmentation of Kitamura Ringed hair disease Roch-Leri mesosomatous lipomatosis Rombo syndrome Rothmund-Thomson syndrome Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome type 2 SAPHO syndrome SCALP syndrome Scalp defects-postaxial polydactyly syndrome Scalp disease Scalp-ear-nipple syndrome Schinzel-Giedion syndrome Schöpf-Schulz-Passarge syndrome Scleromyxedema Sebocystomatosis Seborrhea-like dermatitis with psoriasiform elements Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Self-improving collodion baby Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Severe dermatitis-multiple allergies-metabolic wasting syndrome Severe generalized recessive dystrophic epidermolysis bullosa Skin fragility-woolly hair-palmoplantar keratoderma syndrome Smouldering systemic mastocytosis Sparse hair-short stature-skin anomalies syndrome Spinocerebellar ataxia type 34 Steatocystoma multiplex-natal teeth syndrome Stiff skin syndrome Striate palmoplantar keratoderma Subacute cutaneous lupus erythematosus Subcutaneous panniculitis-like T-cell lymphoma Superficial epidermolytic ichthyosis Superficial fibromatosis Superficial pemphigus Suprabasal epidermolysis bullosa simplex Syndromic hair shaft abnormality Syndromic nail anomaly Syndromic oculocutaneous albinism Syndromic recessive X-linked ichthyosis Syringocystadenoma papilliferum Systemic mastocytosis Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease Systemic sclerosis Sézary syndrome Taurodontia-absent teeth-sparse hair syndrome Teebi-Shaltout syndrome Telangiectasia macularis eruptiva perstans Temperature-sensitive oculocutaneous albinism type 1 Terminal osseous dysplasia-pigmentary defects syndrome Tietz syndrome Toriello-Lacassie-Droste syndrome Transgrediens et progrediens palmoplantar keratoderma Transient bullous dermolysis of the newborn Tricho-dento-osseous syndrome Tricho-retino-dento-digital syndrome Trichodental syndrome Trichodermodysplasia-dental alterations syndrome Trichodysplasia-amelogenesis imperfecta syndrome Trichodysplasia-xeroderma syndrome Trichofolliculoma Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Trichoodontoonychial dysplasia Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome type 1 and 3 Trichorhinophalangeal syndrome type 2 Trichothiodystrophy Tuberous sclerosis complex Typical urticaria pigmentosa Tyrosinemia type 2 UV-sensitive syndrome Ulerythema ophryogenesis Unclassified genetic skin disorder Uncombable hair syndrome Undifferentiated connective tissue syndrome Van den Bosch syndrome Verrucous nevus Vici syndrome Waardenburg syndrome Waardenburg syndrome type 1 Waardenburg syndrome type 2 Waardenburg syndrome type 3 Werner syndrome White sponge nevus Wiedemann-Rautenstrauch syndrome Woolly hair Woolly hair nevus Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome X-linked Ehlers-Danlos syndrome X-linked congenital generalized hypertrichosis X-linked dominant chondrodysplasia punctata X-linked hypohidrotic ectodermal dysplasia X-linked ichthyosis syndrome X-linked reticulate pigmentary disorder Xeroderma pigmentosum Xeroderma pigmentosum variant Xeroderma pigmentosum-Cockayne syndrome complex Zlotogora-Ogur syndrome