Generalized Dowling-Degos disease with an initiation codon mutation of KRT5 mutation

Generalized Dowling-Degos Disease: Case Reports

Dowling-Degos disease (DDD) is a rare autosomal dominant trait characterized by numerous, symmetrical, progressive and pigmented macules over the axillae, groins, face, neck, arms and trunk as well as scattered comedo-like lesions (dark dot, follicles) and pitted acneiform scars. Histopathology is diagnostic testing using a distinctive form of acanthosis, characterized by an irregular elongatio...

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 with asymmetrical axillary distribution and no KRT 5 exon 1 mutation.

Sir, Dowling-Degos disease (DDD) is a rare disorder characterized by acquired pigmented macules and papules in a reticulate pattern, particularly affecting the flexural areas and other major skin folds (1, 2). A female patient presented with dotted and reticulate pigmentation of the axilla, and was diagnosed as DDD both clinically and histopathologically. However, the asymmetrical distribution ...