H00893 | |
H number | H00893 |
Name | Skin fragility-woolly hair syndrome |
Description | Skin fragility-woolly hair syndrome is a rare autosomal recessive genodermatosis caused by defective desmoplakin, an important desmosomal plaque protein. Patients with skin fragility-woolly hair syndrome present with symptoms including focal and diffuse palmoplantar keratoderma, woolly hair, varying degrees of alopecia, and dystrophic nails. Unlike other disorders associated with desmoplakin mutation, no cardiac symptoms are reported in this disease. |
Category | Congenital malformation |
Network | - |
Gene | DSP [HSA:1832] [KO:K10381] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: EC21.1 ICD-10: Q82.8 MeSH: C564359 OMIM: 607655 |
Reference | PMID:20738328 AUTHORS Al-Owain M, Wakil S, Shareef F, Al-Fatani A, Hamadah E, Haider M, Al-Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B TITLE Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes. JOURNAL Clin Genet 80:50-8 (2011) DOI:10.1111/j.1399-0004.2010.01518.x PMID:11841538 AUTHORS Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA TITLE Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. JOURNAL J Invest Dermatol 118:232-8 (2002) DOI:10.1046/j.0022-202x.2001.01664.x |