Genetic Diseases & Conditions - Skin, hair, and nails

The skin is the largest organ in the body. A sizeable number of genetic disorders affect the skin, hair, and nails.

A-T see ataxia-telangiectasia
AAT see alpha-1 antitrypsin deficiency
Adult premature aging syndrome see Werner syndrome
Adult Progeria see Werner syndrome
Albinism, Oculocutaneous see oculocutaneous albinism
alpha-1 antitrypsin deficiency
Alström syndrome
androgenetic alopecia
Androgenic alopecia see androgenetic alopecia
Arachnodactyly see Marfan syndrome
Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type
ataxia-telangiectasia
ATM see ataxia-telangiectasia
BHD see Birt-Hogg-Dubé syndrome
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
Bourneville Disease see tuberous sclerosis
Bourneville Phakomatosis see tuberous sclerosis
Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
CEP see congenital erythropoietic porphyria
cerebral sclerosis see tuberous sclerosis
Chondroectodermal Dysplasia see Ellis-van Creveld syndrome
Classical Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, classical type
congenital erythropoietic porphyria
Copper transport disease see Menkes syndrome
Coproporphyria, Hereditary see hereditary coproporphyria
Coproporphyrinogen oxidase deficiency see hereditary coproporphyria
Costello syndrome
CPO deficiency see hereditary coproporphyria
CPRO deficiency see hereditary coproporphyria
CPX deficiency see hereditary coproporphyria
Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome
Crouzonodermoskeletal syndrome
Dermatosparactic type of Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, dermatosparaxis type
Dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
Early-Onset Combined Carboxylase Deficiency see holocarboxylase synthetase deficiency
EDS see Ehlers-Danlos syndrome
Ehlers-Danlos syndrome
Ellis-van Creveld syndrome
Epiloia see tuberous sclerosis
EPP see erythropoietic protoporphyria
Erythrohepatic protoporphyria see erythropoietic protoporphyria
Erythropoietic Porphyria see congenital erythropoietic porphyria
erythropoietic protoporphyria
Erythropoietic uroporphyria see congenital erythropoietic porphyria
faciocutaneoskeletal syndrome see Costello syndrome
Familial PCT see porphyria cutanea tarda
familial Turner syndrome see Noonan syndrome
FCS syndrome see Costello syndrome
female pattern baldness see androgenetic alopecia
Female Pseudo-Turner Syndrome see Noonan syndrome
Ferrochelatase deficiency see erythropoietic protoporphyria
Fibrofolliculomas with trichodiscomas and acrochordons see Birt-Hogg-Dubé syndrome
genetic emphysema see alpha-1 antitrypsin deficiency
Gronblad-Strandberg Syndrome see pseudoxanthoma elasticum
Guenther porphyria see congenital erythropoietic porphyria
Gunther Disease see congenital erythropoietic porphyria
harlequin ichthyosis
HCP see hereditary coproporphyria
Hematoporphyria see porphyria
Haeme synthetase deficiency see erythropoietic protoporphyria
HEP see hepatoerythropoietic porphyria
hepatoerythropoietic porphyria
hereditary coproporphyria
hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency
HGPS see Hutchinson-Gilford progeria syndrome
HI see harlequin ichthyosis
HLCS deficiency see holocarboxylase synthetase deficiency
holocarboxylase synthetase deficiency
Homozygous porphyria cutanea tarda see hepatoerythropoietic porphyria
Hornstein-Knickenberg syndrome see Birt-Hogg-Dubé syndrome
Human dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type
Hutchinson-Gilford progeria syndrome
Hypocupremia, Congenital see Menkes syndrome
Ichthyosis Congenita, Harlequin foetus Type see harlequin ichthyosis
incontinentia pigmenti
Infantile Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
inherited emphysema see alpha-1 antitrypsin deficiency
Intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome
IP see incontinentia pigmenti
Kinky Hair Syndrome see Menkes syndrome
Lentiginosis, Perioral see Peutz-Jeghers syndrome
Louis-Bar syndrome see ataxia-telangiectasia
Lysyl-hydroxylase deficiency see Ehlers-Danlos syndrome, kyphoscoliosis type
Male Pattern Alopecia see androgenetic alopecia
Male Pattern Baldness see androgenetic alopecia
Male Turner Syndrome see Noonan syndrome
Marfan syndrome
Menkea syndrome see Menkes syndrome
Menkes syndrome
MFS see Marfan syndrome
MK - Menkes syndrome see Menkes syndrome
MNK - Menkes syndrome see Menkes syndrome
Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
Multiple Carboxylase Deficiency, Neonatal Form see holocarboxylase synthetase deficiency
neurofibromatosis type 1
NF1 see neurofibromatosis type 1
Noonan syndrome
OCA - Oculocutaneous albinism see oculocutaneous albinism
oculocutaneous albinism
Pattern baldness see androgenetic alopecia
PCT see porphyria cutanea tarda
Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome
Peripheral Neurofibromatosis see neurofibromatosis type 1
Peutz-Jeghers syndrome
PJS see Peutz-Jeghers syndrome
Polyposis, hamartomatous intestinal see Peutz-Jeghers syndrome
Polyposis, Intestinal, II see Peutz-Jeghers syndrome
Polyps-and-spots syndrome see Peutz-Jeghers syndrome
porphyria
porphyrin disorder see porphyria
PPOX deficiency see variegate porphyria
Procollagen type EDS VII, mutant see Ehlers-Danlos syndrome, arthrochalasia type
Progeria see Hutchinson-Gilford progeria syndrome
Protoporphyria see erythropoietic protoporphyria
Protoporphyrinogen oxidase deficiency see variegate porphyria
pseudo-Ullrich-Turner syndrome see Noonan syndrome
pseudoxanthoma elasticum
PXE - Pseudoxanthoma elasticum see pseudoxanthoma elasticum
Recklinghausen Disease, Nerve see neurofibromatosis type 1
Sack-Barabas syndrome see Ehlers-Danlos syndrome, vascular type
SADDAN
sclerosis tuberosa see tuberous sclerosis
Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN
Skeleton-skin-brain syndrome see SADDAN
South African genetic porphyria see variegate porphyria
SSB syndrome see SADDAN
Steely Hair Syndrome see Menkes syndrome
Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
tuberose sclerosis see tuberous sclerosis
tuberous sclerosis
Turner-like syndrome see Noonan syndrome
Turner syndrome in female with X chromosome see Noonan syndrome
Turner's phenotype, karyotype normal see Noonan syndrome
Ullrich-Noonan syndrome see Noonan syndrome
UROD deficiency see porphyria cutanea tarda
Uroporphyrinogen decarboxylase deficiency see porphyria cutanea tarda
UROS deficiency see congenital erythropoietic porphyria
variegate porphyria
von Recklinghausen Disease see neurofibromatosis type 1
VP see variegate porphyria
Waardenburg syndrome
Werner syndrome
WS see Werner syndrome
X-linked copper deficiency see Menkes syndrome