| H00893 | |
| H番号 | H00893 |
| 名称 | Skin fragility-woolly hair 症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | DSP [HSA:1832] [KO:K10381] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC21.1 ICD-10: Q82.8 MeSH: C564359 OMIM: 607655 |
| 文献 | PMID:20738328 著者 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 タイトル Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes. 雑誌 Clin Genet 80:50-8 (2011) DOI:10.1111/j.1399-0004.2010.01518.x PMID:11841538 著者 Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA タイトル Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. 雑誌 J Invest Dermatol 118:232-8 (2002) DOI:10.1046/j.0022-202x.2001.01664.x |