| H00715 | |
| H number | H00715 |
| Name | Darier disease; Dyskeratosis follicularis |
| Description | Darier disease is a skin disorder with keratotic papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead) and nail abnormalities. The disease usually starts at puberty and characterized by loss of cell-to-cell adhesion and abnormal keratinization. Darier disease is caused by mutations in ATP2A2, the gene encoding a sarco/endoplasmic reticulum Ca2+-ATPase. Because of some similarities in their etiopathology, Hailey-Hailey disease [DS:H00844] is often discussed together with Darier disease. Both diseases are autosomal dominantly inherited genodermatosis and are caused by abnormal epidermal calcium homeostasis. |
| Category | Congenital malformation |
| Network | nt06528(H00715) Calcium signaling |
| Gene | ATP2A2 [HSA:488] [KO:K05853] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC20.2 ICD-10: Q82.8 MeSH: D007644 OMIM: 124200 |
| Reference | PMID:21167218 AUTHORS Savignac M, Edir A, Simon M, Hovnanian A TITLE Darier disease : a disease model of impaired calcium homeostasis in the skin. JOURNAL Biochim Biophys Acta 1813:1111-7 (2011) DOI:10.1016/j.bbamcr.2010.12.006 PMID:15649206 AUTHORS Zeglaoui F, Zaraa I, Fazaa B, Houimli S, El Fekih N, Ezzine N, Kamoun MR TITLE Dyskeratosis follicularis disease: case reports and review of the literature. JOURNAL J Eur Acad Dermatol Venereol 19:114-7 (2005) DOI:10.1111/j.1468-3083.2004.01096.x PMID:15468148 AUTHORS Foggia L, Hovnanian A TITLE Calcium pump disorders of the skin. JOURNAL Am J Med Genet C Semin Med Genet 131C:20-31 (2004) DOI:10.1002/ajmg.c.30031 PMID:28507500 AUTHORS Tomaszewska KA, Gerlicz-Kowalczuk Z, Kregiel M, Noweta M, Pluzanka-Srebrzynska K, Zuchowska A, Kaszuba A TITLE The coexistence of Darier's disease and Hailey-Hailey disease symptoms. JOURNAL Postepy Dermatol Alergol 34:180-183 (2017) DOI:10.5114/ada.2017.67087 |