| H00780 | |
| H number | H00780 |
| Name | Atrichia with papular lesions |
| Description | 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. |
| Category | Skin disease |
| Network | - |
| Gene | HR [HSA:55806] [KO:K00478] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC21.2 ICD-10: L72.8 MeSH: C565924 OMIM: 209500 |
| Reference | PMID:18709303 AUTHORS Yip L, Horev L, Sinclair R, Zlotogorski A TITLE Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria. JOURNAL Acta Derm Venereol 88:346-9 (2008) DOI:10.2340/00015555-0466 PMID:21919222 AUTHORS Azeem Z, Wasif N, Basit S, Razak S, Waheed RA, Islam A, Ayub M, Kafaitullah, Kamran-ul-hassan Naqvi S, Ali G, Ahmad W TITLE Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families. JOURNAL J Dermatol 38:755-60 (2011) DOI:10.1111/j.1346-8138.2010.01151.x PMID:21747609 AUTHORS Lee D, Kim SH, Chun JS, Joo MH, Kim JY, Hwang SW, Kang HJ, Park SW, Sung HS TITLE Detection of a novel missense mutations in atrichia with papular lesions. JOURNAL Ann Dermatol 23:132-7 (2011) DOI:10.5021/ad.2011.23.2.132 PMID:17609203 AUTHORS Wang J, Malloy PJ, Feldman D TITLE Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions. JOURNAL J Biol Chem 282:25231-9 (2007) DOI:10.1074/jbc.M702939200 |