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	Genetic Conditions: Skin, Hair & Nails The skin is the largest organ in the body. A sizeable number of genetic disorders affect the skin, hair, and nails. - A - A-T see Ataxia-telangiectasia Adult premature aging syndrome see Werner syndrome Adult Progeria see Werner syndrome Adult Refsum disease see Refsum disease Albinism, Oculocutaneous see Oculocutaneous albinism Albright-McCune-Sternberg syndrome see McCune-Albright syndrome Albright-Sternberg syndrome see McCune-Albright syndrome Albright syndrome see McCune-Albright syndrome Albright's disease see McCune-Albright syndrome Aldrich syndrome see Wiskott-Aldrich syndrome ALMS see Alström syndrome Alpha-fucosidase deficiency see Fucosidosis Alström syndrome Androgenetic alopecia Androgenic alopecia see Androgenetic alopecia Anhidrotic ectodermal dysplasia see Hypohidrotic ectodermal dysplasia ARD see Refsum disease Ataxia-telangiectasia ATM see Ataxia-telangiectasia - B - Baller-Gerold syndrome Basal Cell Nevus syndrome see Gorlin syndrome BCNS see Gorlin syndrome BGS see Baller-Gerold syndrome BHD see Birt-Hogg-Dubé syndrome BIOT see Biotinidase deficiency Biotinidase deficiency Birt-Hogg-Dubé syndrome Bloch-Siemens-Sulzberger syndrome see Incontinentia pigmenti Bloch-Siemens syndrome see Incontinentia pigmenti Bloch-Sulzberger syndrome see Incontinentia pigmenti Bloom syndrome Bourneville disease see Tuberous sclerosis complex Bourneville Phakomatosis see Tuberous sclerosis complex BTD deficiency see Biotinidase deficiency Buckley syndrome see Job syndrome - C - Carboxylase deficiency, multiple, late-onset see Biotinidase deficiency Cardio-facio-cutaneous syndrome see Cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome Carmi syndrome see Epidermolysis bullosa with pyloric atresia Cartilage-hair hypoplasia CDS see Chanarin-Dorfman syndrome Cerebral sclerosis see Tuberous sclerosis complex CFC syndrome see Cardiofaciocutaneous syndrome Chanarin-Dorfman syndrome Chediak-Higashi syndrome Chediak-Steinbrinck-Higashi syndrome see Chediak-Higashi syndrome CHH see Cartilage-hair hypoplasia CHILD syndrome see Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Chondroectodermal Dysplasia see Ellis-van Creveld syndrome Christ-Siemens-Touraine syndrome see Hypohidrotic ectodermal dysplasia Chronic infantile neurologic, cutaneous, and articular syndrome see Neonatal onset multisystem inflammatory disease Chronic neurologic, cutaneous, and articular syndrome see Neonatal onset multisystem inflammatory disease Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis see Majeed syndrome CHS see Chediak-Higashi syndrome CINCA see Neonatal onset multisystem inflammatory disease Classic Refsum disease see Refsum disease Cold hypersensitivity see Familial cold autoinflammatory syndrome Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Congenital pachyonychia see pachyonychia congenita Congenital poikiloderma see Rothmund-Thomson syndrome Copper transport disease see Menkes syndrome Costello syndrome Craniosynostosis-radial aplasia syndrome see Baller-Gerold syndrome Craniosynostosis with radial defects see Baller-Gerold syndrome CRD see Refsum disease Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome Crouzonodermoskeletal syndrome CST syndrome see Hypohidrotic ectodermal dysplasia Cutaneous ossification see Progressive osseous heteroplasia Cutis laxa - D - Darier disease 22q13.3 deletion syndrome 22q13 deletion syndrome see 22q13.3 deletion syndrome Dermatolysis see Cutis laxa Dermatomegaly see Cutis laxa Dystrophic epidermolysis bullosa - E - Early-onset biotin-responsive multiple carboxylase deficiency see Holocarboxylase synthetase deficiency Early-onset combined carboxylase deficiency see Holocarboxylase synthetase deficiency EB-PA see Epidermolysis bullosa with pyloric atresia Ectopic ossification see Progressive osseous heteroplasia Eczema-thrombocytopenia-immunodeficiency syndrome see Wiskott-Aldrich syndrome EDS see Ehlers-Danlos syndrome Ehlers-Danlos syndrome Ellis-van Creveld syndrome Epidermolysis bullosa, dystrophic see Dystrophic epidermolysis bullosa Epidermolysis bullosa, junctional see Junctional epidermolysis bullosa Epidermolysis bullosa simplex Epidermolysis bullosa with pyloric atresia Epiloia see Tuberous sclerosis complex Erythermalgia see Erythromelalgia Erythromelalgia - F - Facio-genito-popliteal syndrome see Popliteal pterygium syndrome Faciocutaneoskeletal syndrome see Costello syndrome Familial cold autoinflammatory syndrome Familial Turner syndrome see Noonan syndrome FCAS see Familial cold autoinflammatory syndrome FCS syndrome see Costello syndrome FCU see Familial cold autoinflammatory syndrome Female pattern baldness see Androgenetic alopecia Female pseudo-Turner syndrome see Noonan syndrome Fibrofolliculomas with trichodiscomas and acrochordons see Birt-Hogg-Dubé syndrome Fibrous dysplasia, polyostotic see McCune-Albright syndrome Fibrous dysplasia with pigmentary skin changes and precocious puberty see McCune-Albright syndrome Focal dermal hypoplasia Fong disease see Nail-patella syndrome Fucosidase deficiency see Fucosidosis Fucosidosis - G - Geleophysic dysplasia Goltz-Gorlin syndrome see Focal dermal hypoplasia Goltz syndrome see Focal dermal hypoplasia Gorlin syndrome Gronblad-Strandberg syndrome see Pseudoxanthoma elasticum - H - Harlequin ichthyosis HED see Hypohidrotic ectodermal dysplasia Hematoporphyria see porphyria Hereditary leiomyomatosis and renal cell cancer Hereditary motor and sensory neuropathy Type IV see Refsum disease Hereditary onycho-osteodysplasia see Nail-patella syndrome Hereditary Osteo-Onychodysplasias see Nail-patella syndrome Heredopathia atactica polyneuritiformis see Refsum disease Hermansky-Pudlak syndrome Heterotopic Ossification see Progressive osseous heteroplasia HGPS see Hutchinson-Gilford progeria syndrome HI see Harlequin ichthyosis HIE syndrome see Job syndrome HIES see Job syndrome HLCS deficiency see Holocarboxylase synthetase deficiency HLRCC see Hereditary leiomyomatosis and renal cell cancer HMSN IV see Refsum disease HMSN type IV see Refsum disease Holocarboxylase synthetase deficiency Hornstein-Knickenberg syndrome see Birt-Hogg-Dubé syndrome HPS see Hermansky-Pudlak syndrome Hutchinson-Gilford progeria syndrome Hyper-IgE syndrome see Job syndrome Hyperimmunoglobulin E-Recurrent Infection syndrome see Job syndrome Hypocupremia, Congenital see Menkes syndrome Hypohidrotic ectodermal dysplasia - I - Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs see Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Ichthyosis congenita, harlequin fetus type see Harlequin ichthyosis Ichthyotic neutral lipid storage disease see Chanarin-Dorfman syndrome IMD2 see Wiskott-Aldrich syndrome Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome Immunodeficiency 2 see Wiskott-Aldrich syndrome Incontinentia pigmenti Infantile multiple carboxylase deficiency see Holocarboxylase synthetase deficiency Infantile onset multisystem inflammatory disease see Neonatal onset multisystem inflammatory disease Infantile systemic hyalinosis Inherited systemic hyalinosis see Infantile systemic hyalinosis; Iuvenile hyaline fibromatosis Intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome IOMID syndrome see Neonatal onset multisystem inflammatory disease IP see Incontinentia pigmenti IPEX syndrome see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome - J - Jackson-Lawler syndrome (PC-2) see pachyonychia congenita Jadassohn-Lewandowski syndrome (PC-1) see pachyonychia congenita JEB see Junctional epidermolysis bullosa Job syndrome Junctional epidermolysis bullosa Junctional epidermolysis bullosa with pyloric atresia see Epidermolysis bullosa with pyloric atresia Juvenile hyaline fibromatosis - K - Keratosis Follicularis see Darier disease Kinky hair syndrome see Menkes syndrome - L - Late-onset biotin-responsive multiple carboxylase deficiency see Biotinidase deficiency Late-onset multiple carboxylase deficiency see Biotinidase deficiency Leiomyomatosis and renal cell cancer see Hereditary leiomyomatosis and renal cell cancer Lentiginosis, perioral see Peutz-Jeghers syndrome Louis-Bar syndrome see Ataxia-telangiectasia LRCC see Hereditary leiomyomatosis and renal cell cancer - M - Majeed syndrome Male pattern alopecia see Androgenetic alopecia Male pattern baldness see Androgenetic alopecia Male Turner syndrome see Noonan syndrome MAS see McCune-Albright syndrome McCune-Albright syndrome McKusick's metaphyseal chondrodysplasia syndrome see Cartilage-hair hypoplasia MCL see Hereditary leiomyomatosis and renal cell cancer MCOPS7 see Microphthalmia with linear skin defects syndrome MCUL see Hereditary leiomyomatosis and renal cell cancer Menkea syndrome see Menkes syndrome Menkes syndrome Metaphyseal chondrodysplasia, McKusick type see Cartilage-hair hypoplasia Metaphyseal chondrodysplasia, recessive type see Cartilage-hair hypoplasia Microphthalmia with linear skin defects syndrome MIDAS syndrome see Microphthalmia with linear skin defects syndrome MK see Menkes syndrome MLS syndrome see Microphthalmia with linear skin defects syndrome MNK see Menkes syndrome Molluscum fibrosum see Juvenile hyaline fibromatosis Monosomy 22q13 see 22q13.3 deletion syndrome Muckle-Wells syndrome Mucocutaneous venous malformations see Multiple cutaneous and mucosal venous malformations Multiple carboxylase deficiency, late-onset see Biotinidase deficiency Multiple carboxylase deficiency, neonatal form see Holocarboxylase synthetase deficiency Multiple cutaneous and mucosal venous malformations Multiple cutaneous and uterine leiomyomata see Hereditary leiomyomatosis and renal cell cancer Multiple cutaneous leiomyoma see Hereditary leiomyomatosis and renal cell cancer Murray syndrome see Juvenile hyaline fibromatosis MWS see Muckle-Wells syndrome - N - Nail-patella syndrome NBCCS see Gorlin syndrome Neonatal onset multisystem inflammatory disease Neurofibromatosis type 1 Neutral lipid storage disease with ichthyosis see Chanarin-Dorfman syndrome Nevoid Basal Cell Carcinoma syndrome see Gorlin syndrome NF1 see Neurofibromatosis type 1 NOMID see Neonatal onset multisystem inflammatory disease Noonan syndrome - O - OCA see Oculocutaneous albinism Oculo-dento-digital dysplasia see Oculodentodigital dysplasia Oculo-dento-osseous dysplasia see Oculodentodigital dysplasia Oculocutaneous albinism Oculocutaneous albinism with leukocyte defect see Chediak-Higashi syndrome Oculodentodigital dysplasia Oculodentoosseous dysplasia see Oculodentodigital dysplasia ODD syndrome see Oculodentodigital dysplasia ODDD see Oculodentodigital dysplasia ODOD see Oculodentodigital dysplasia Osseous-oculo-dental dysplasia see Oculodentodigital dysplasia Osteitis fibrosa disseminata see McCune-Albright syndrome Osteodermia see Progressive osseous heteroplasia Osteoma cutis see Progressive osseous heteroplasia Osteosis cutis see Progressive osseous heteroplasia Osterreicher syndrome see Nail-patella syndrome - P - PA-JEB see Epidermolysis bullosa with pyloric atresia Pachyonychia congenita Pattern baldness see Androgenetic alopecia Pelvic Horn syndrome see Nail-patella syndrome Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome Peripheral neurofibromatosis see Neurofibromatosis type 1 Peutz-Jeghers syndrome PFD see McCune-Albright syndrome Phelan-McDermid syndrome see 22q13.3 deletion syndrome Phytanic acid storage disease see Refsum disease PJS see Peutz-Jeghers syndrome POFD see McCune-Albright syndrome POH see Progressive osseous heteroplasia Poikiloderma atrophicans and cataract see Rothmund-Thomson syndrome Poikiloderma congenitale see Rothmund-Thomson syndrome Polyostotic fibrous dysplasia see McCune-Albright syndrome Polyposis, hamartomatous intestinal see Peutz-Jeghers syndrome Polyposis, intestinal, II see Peutz-Jeghers syndrome Polyps-and-spots syndrome see Peutz-Jeghers syndrome Popliteal pterygium syndrome Porphyria Porphyrin disorder see porphyria PPS see Popliteal pterygium syndrome Prieur-Griscelli syndrome see Neonatal onset multisystem inflammatory disease Primary erythromelalgia see Erythromelalgia Progeria see Hutchinson-Gilford progeria syndrome Progressive osseous heteroplasia Pseudo-Ullrich-Turner syndrome see Noonan syndrome Pseudoxanthoma elasticum Puretic syndrome see Juvenile hyaline fibromatosis PXE see Pseudoxanthoma elasticum - Q - - R - Recklinghausen disease, nerve see Neurofibromatosis type 1 Reed's syndrome see Hereditary leiomyomatosis and renal cell cancer Refsum disease Rothmund-Thomson syndrome RTS see Rothmund-Thomson syndrome - S - SADDAN Sclerosis tuberosa see Tuberous sclerosis complex Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN Skeleton-skin-brain syndrome see SADDAN SSB syndrome see SADDAN Steely hair syndrome see Menkes syndrome Syndromic microphthalmia-7 see Microphthalmia with linear skin defects syndrome Systemic hyalinosis see Juvenile hyaline fibromatosis - T - Telangiectasia, cerebello-oculocutaneous see Ataxia-telangiectasia Triglyceride storage disease with ichthyosis see Chanarin-Dorfman syndrome Triglyceride storage disease with impaired long-chain fatty acid oxidation see Chanarin-Dorfman syndrome Tuberose sclerosis see Tuberous sclerosis complex Tuberous sclerosis complex Turner-Kieser syndrome see Nail-patella syndrome Turner-like syndrome see Noonan syndrome Turner syndrome in female with X chromosome see Noonan syndrome Turner's phenotype, karyotype normal see Noonan syndrome - U - UDA syndrome see Muckle-Wells syndrome Ullrich-Noonan syndrome see Noonan syndrome Urticaria-deafness-amyloidosis syndrome see Muckle-Wells syndrome - V - VMCM see Multiple cutaneous and mucosal venous malformations von Recklinghausen disease see Neurofibromatosis type 1 - W - Waardenburg syndrome Werner syndrome Wiskott-Aldrich syndrome WS see Werner syndrome - X - X-linked copper deficiency see Menkes syndrome - Y - - Z - The information in this page is primarily for reference and education. It is not intended to be a substitute for the advice of a physician. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.