Dowling-Degos disease

Definition:

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.

References:

[1]. Aleksandra Batycka-Baran, et al. Dowling-Degos disease: case report and review of the literature. Dermatology. 2010;220(3):254-8. [Content Brief]

[2]. Carolina Cotta Zimmermann, et al. Dowling-Degos disease: classic clinical and histopathological presentation. An Bras Dermatol. 2011 Sep-Oct;86(5):979-82. [Content Brief]

[3]. F Buket Basmanav, et al. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet. 2014 Jan 2;94(1):135-43. [Content Brief]

[4]. Ming Li, et al. Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. Am J Hum Genet. 2013 Jun 6;92(6):895-903. [Content Brief]

[5]. Regina C Betz, et al. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet. 2006 Mar;78(3):510-9. [Content Brief]

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