| H00944 | |
| H番号 | H00944 |
| 名称 | ダウリング‐デゴス病 |
| 概要 | Dowling-Degos disease is a rare pigmented skin disorder caused by mutations in keratin 5 and protein O-fucosyltransferase 1. Small hyperpigmented macules appear in a clustered or reticulated pattern at flexural sites, such as the neck, axilla, and antecubital fossa. There may be comedo-like papules on the back and pitted scars on perioral or facial regions. |
| カテゴリ | 皮膚疾患 |
| ネットワーク | - |
| 病因遺伝子 | (DDD1) KRT5 [HSA:3852] [KO:K07605] (DDD2) POFUT1 [HSA:23509] [KO:K03691] (DDD4) POGLUT1 [HSA:56983] [KO:K13667] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: EC23.0 MeSH: C562924 OMIM: 179850 615327 615696 |
| 文献 | PMID:20332593 著者 Batycka-Baran A, Baran W, Hryncewicz-Gwozdz A, Burgdorf W タイトル Dowling-Degos disease: case report and review of the literature. 雑誌 Dermatology 220:254-8 (2010) DOI:10.1159/000278349 PMID:22147038 著者 Zimmermann CC, Sforza D, Macedo PM, Azulay-Abulafia L, Alves Mde F, Carneiro SC タイトル Dowling-Degos disease: classic clinical and histopathological presentation. 雑誌 An Bras Dermatol 86:979-82 (2011) DOI:10.1590/S0365-05962011000500016 PMID:21810386 著者 Horner ME, Parkinson KE, Kaye V, Lynch PJ タイトル Dowling-Degos disease involving the vulva and back: case report and review of the literature. 雑誌 Dermatol Online J 17:1 (2011) DOI:10.5070/D38xq4s916 PMID:16465624 (KRT5) 著者 Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nothen MM, Magin TM, Kruse R タイトル Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. 雑誌 Am J Hum Genet 78:510-9 (2006) DOI:10.1086/500850 PMID:23684010 (POFUT1) 著者 Li M, Cheng R, Liang J, Yan H, Zhang H, Yang L, Li C, Jiao Q, Lu Z, He J, Ji J, Shen Z, Li C, Hao F, Yu H, Yao Z タイトル Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. 雑誌 Am J Hum Genet 92:895-903 (2013) DOI:10.1016/j.ajhg.2013.04.022 PMID:24387993 (POGLUT1) 著者 Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Grosser L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmuller J, Rutten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nurnberg P, Kruse R, Schoch S, Hanneken S, Betz RC タイトル Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. 雑誌 Am J Hum Genet 94:135-43 (2014) DOI:10.1016/j.ajhg.2013.12.003 |