KEGG   DISEASE: Dowling-Degos disease
Entry
H00944                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC23  Genetic disorders of skin pigmentation
    H00944  Dowling-Degos disease
Pathway
hsa00514  Other types of O-glycan biosynthesis
Gene
(DDD1) KRT5 [HSA:3852] [KO:K07605]
(DDD2) POFUT1 [HSA:23509] [KO:K03691]
(DDD4) POGLUT1 [HSA:56983] [KO:K13667]
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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

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Disease (3)   
   OMIM (3)   
Gene (6)   
   KEGG ORTHOLOGY (3)   
   KEGG GENES (3)   
Literature (6)   
   PubMed (6)   
All databases (15)   

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