Genome-wide linkage and exome sequencing analyses identify an initiation codon mutation ofKRT5in a unique Chinese family with generalized Dowling–Degos disease

M.L., J.W. and J.Z. contributed equally to this paper. Funding sources: this work was supported by a grant from the National Natural Science Foundation of China (81472867) and a grant from the Research Fund for the Doctoral Program of Higher Education of China (20130073120014). Conflicts of interest: none declared. Dear Editor, Dowling–Degos disease (DDD) is a rare autosomal dominant genodermatosis characterized by reticulate pigmentation of the flexures in combination with an irregular elongation of thin branching rete ridges in histopathology.1 A special form called generalized DDD has also been reported, which presents predominantly with hyper‐ and/or hypopigmented macules on the neck, chest and abdomen instead of reticulate hyperpigmentation confined to the flexor areas. Loss‐of‐function mutations in KRT5, POFUT1, POGLUT1 and one candidate gene mapping at 17q21.3–q22 have been identified as being responsible for classical DDD or generalized DDD.2–5 The purpose of this paper is to introduce a case of special generalized DDD with a family history that clinically resembles dyschromatosis universalis hereditaria (DUH), and to reveal the candidate gene through linkage and exome sequencing analyses.