| H00844 | |
| H number | H00844 |
| Name | Familial benign chronic pemphigus; Hailey-Hailey disease |
| Description | Familial benign chronic pemphigus, also known as Hailey-Hailey disease, is a rare, autosomal dominant skin disorder. The clinical features are uncomfortable skin blisters and vegetative lesions caused by friction. Lesions generally begin between 20 and 40 years of age. In two third of all cases, positive family history is detected. Mutations in ATP2C1 that encodes a secretory pathway Ca2+/Mn2+-ATPase in the Golgi apparatus impair desmosomal keratinocyte adhesion in Hailey-Hailey disease. |
| Category | Congenital malformation |
| Network | - |
| Gene | ATP2C1 [HSA:27032] [KO:K01537] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC20.2 ICD-10: Q82.8 MeSH: D016506 OMIM: 169600 |
| Reference | PMID:15149492 AUTHORS Dhitavat J, Fairclough RJ, Hovnanian A, Burge SM TITLE Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease. JOURNAL Br J Dermatol 150:821-8 (2004) DOI:10.1111/j.1365-2133.2004.05904.x PMID:10615129 AUTHORS Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr TITLE Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. JOURNAL Nat Genet 24:61-5 (2000) DOI:10.1038/71701 PMID:26051060 AUTHORS Engin B, Kutlubay Z, Celik U, Serdaroglu S, Tuzun Y TITLE Hailey-Hailey disease: A fold (intertriginous) dermatosis. JOURNAL Clin Dermatol 33:452-5 (2015) DOI:10.1016/j.clindermatol.2015.04.006 |