Analysis of POFUT1 Gene Mutation in a Chinese Family with Dowling-Degos Disease

Analysis of POFUT1 Gene Mutation in a Chinese Family with Dowling-Degos Disease

Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis characterized by reticular pigmented anomaly mainly affecting flexures. Though KRT5 has been identified to be the causal gene of DDD, the heterogeneity of this disease was displayed: for example, POFUT1 and POGLUT1 were recently identified and confirmed to be additional pathogenic genes of DDD. To identify other DDD causative g...

Dowling-Degos disease.

Dowling-Degos disease (DDD) is a rare autosomal dominant inherited pigmentary disorder of the flexures with a reticulate aspect and with presence of prominent comedone-like lesions and pitted scars. The diagnosis includes acanthosis nigricans as well as other reticulate pigmentary disorders classified into: dyschromatrosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DU...

[Dowling-Degos disease].

Dowling-Degos disease: Report of a case with pigmentation localized only in the genital area

Dowling –Degos disease is a rare condition. It is inherited by an autosomal dominant gene. It usually presents in adult life as small, pigmented, asymptomatic macules in flexural regions. We report a 35-year-old woman with Dowling- Degos disease, in whom the reticular pigmentation confined to the genital area.

Generalised Dowling-Degos Disease: A Rare Variant with Hypopigmented Macules

Dowling Degos disease is characterised by hyperpigmented macules arranged in a reticulate pattern in the flexures. The rare hypopigmented variant shows characteristic acanthosis with antler like rete ridges but with pigment only at the tips of the rete ridges. We describe here a rare variant with coexistence of characteristic reticulate hyperpigmentation and hypopigmented macules, which has bee...