Dowling–Degos disease with mutation in the exon 1 of the keratin 5 gene

Dowling–Degos disease (DDD) is an autosomal dominant genodermatosis characterised by acquired hyperpigmentation in a reticulate pattern, particularly affecting the flexural areas and other major skin folds. Mutations in KRT5, POFUT1 and POGLUT1 genes have been identified as causative genetic defects1,2,3. We report a new mutation in KRT5 in a sporadic Chinese patient with classical features of DDD. The patient, a 54-year-old man presented a 10-year history of progressively prutitic reticulated hyperpigmented macules in the flexural areas. He had no family history of similar skin eruptions. This article is protected by copyright. All rights reserved.