| H00780 | |
| H番号 | H00780 |
| 名称 | 丘疹を伴う無毛症 |
| 概要 | Atrichia with papular lesions is a rare disease characterized by early onset irreversible alopecia and papular lesions of keratin-filled cysts over the extensor areas of the body. It is caused by mutations in hairless gene, whose defects brings about complete hair loss in mice. It is inherited in autosomal recessive manner. |
| カテゴリ | 皮膚疾患 |
| ネットワーク | - |
| 病因遺伝子 | HR [HSA:55806] [KO:K00478] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC21.2 ICD-10: L72.8 MeSH: C565924 OMIM: 209500 |
| 文献 | PMID:18709303 著者 Yip L, Horev L, Sinclair R, Zlotogorski A タイトル Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria. 雑誌 Acta Derm Venereol 88:346-9 (2008) DOI:10.2340/00015555-0466 PMID:21919222 著者 Azeem Z, Wasif N, Basit S, Razak S, Waheed RA, Islam A, Ayub M, Kafaitullah, Kamran-ul-hassan Naqvi S, Ali G, Ahmad W タイトル Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families. 雑誌 J Dermatol 38:755-60 (2011) DOI:10.1111/j.1346-8138.2010.01151.x PMID:21747609 著者 Lee D, Kim SH, Chun JS, Joo MH, Kim JY, Hwang SW, Kang HJ, Park SW, Sung HS タイトル Detection of a novel missense mutations in atrichia with papular lesions. 雑誌 Ann Dermatol 23:132-7 (2011) DOI:10.5021/ad.2011.23.2.132 PMID:17609203 著者 Wang J, Malloy PJ, Feldman D タイトル Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions. 雑誌 J Biol Chem 282:25231-9 (2007) DOI:10.1074/jbc.M702939200 |