| H00944 | |
| H number | H00944 |
| Name | Dowling-Degos disease |
| Description | 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. |
| Category | Skin disease |
| Network | - |
| Gene | (DDD1) KRT5 [HSA:3852] [KO:K07605] (DDD2) POFUT1 [HSA:23509] [KO:K03691] (DDD4) POGLUT1 [HSA:56983] [KO:K13667] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC23.0 MeSH: C562924 OMIM: 179850 615327 615696 |
| Reference | PMID:20332593 AUTHORS Batycka-Baran A, Baran W, Hryncewicz-Gwozdz A, Burgdorf W TITLE Dowling-Degos disease: case report and review of the literature. JOURNAL Dermatology 220:254-8 (2010) DOI:10.1159/000278349 PMID:22147038 AUTHORS Zimmermann CC, Sforza D, Macedo PM, Azulay-Abulafia L, Alves Mde F, Carneiro SC TITLE Dowling-Degos disease: classic clinical and histopathological presentation. JOURNAL An Bras Dermatol 86:979-82 (2011) DOI:10.1590/S0365-05962011000500016 PMID:21810386 AUTHORS Horner ME, Parkinson KE, Kaye V, Lynch PJ TITLE Dowling-Degos disease involving the vulva and back: case report and review of the literature. JOURNAL Dermatol Online J 17:1 (2011) DOI:10.5070/D38xq4s916 PMID:16465624 (KRT5) AUTHORS 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 TITLE Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. JOURNAL Am J Hum Genet 78:510-9 (2006) DOI:10.1086/500850 PMID:23684010 (POFUT1) AUTHORS 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 TITLE Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. JOURNAL Am J Hum Genet 92:895-903 (2013) DOI:10.1016/j.ajhg.2013.04.022 PMID:24387993 (POGLUT1) AUTHORS 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 TITLE Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. JOURNAL Am J Hum Genet 94:135-43 (2014) DOI:10.1016/j.ajhg.2013.12.003 |