| H00715 | |
| H番号 | H00715 |
| 名称 | ダリエー病; 毛包性角化異常症 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06528(H00715) Calcium signaling |
| 病因遺伝子 | ATP2A2 [HSA:488] [KO:K05853] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | サリチル酸 [DR:D00097] エトレチナート [DR:D00316] |
| コメント | - |
| リンク | ICD-11: EC20.2 ICD-10: Q82.8 MeSH: D007644 OMIM: 124200 |
| 文献 | PMID:21167218 著者 Savignac M, Edir A, Simon M, Hovnanian A タイトル Darier disease : a disease model of impaired calcium homeostasis in the skin. 雑誌 Biochim Biophys Acta 1813:1111-7 (2011) DOI:10.1016/j.bbamcr.2010.12.006 PMID:15649206 著者 Zeglaoui F, Zaraa I, Fazaa B, Houimli S, El Fekih N, Ezzine N, Kamoun MR タイトル Dyskeratosis follicularis disease: case reports and review of the literature. 雑誌 J Eur Acad Dermatol Venereol 19:114-7 (2005) DOI:10.1111/j.1468-3083.2004.01096.x PMID:15468148 著者 Foggia L, Hovnanian A タイトル Calcium pump disorders of the skin. 雑誌 Am J Med Genet C Semin Med Genet 131C:20-31 (2004) DOI:10.1002/ajmg.c.30031 PMID:28507500 著者 Tomaszewska KA, Gerlicz-Kowalczuk Z, Kregiel M, Noweta M, Pluzanka-Srebrzynska K, Zuchowska A, Kaszuba A タイトル The coexistence of Darier's disease and Hailey-Hailey disease symptoms. 雑誌 Postepy Dermatol Alergol 34:180-183 (2017) DOI:10.5114/ada.2017.67087 |