Dyschromatosis universalis hereditaria: a familial case with ultrastructural skin investigation

Abstract

Dyschromatosis universalis hereditaria (DUH) is a rare disease that is inherited both in autosomal dominant and autosomal recessive patterns. It is characterized by appearance of pinpoint to pea-sized hypo- and hyper-pigmented macules distributed in a reticulated pattern over the trunk and limbs within the first few years of life. Although the pathogenesis is still not clear, some authors proposed that decreased melanosome synthesis rate may underlie this disorder. We describe a 56-year-old female and her 24-year-old son with generalized symmetrically distributed hypo- and hyper-pigmented macules. After clinical, histological and ultrastructural examination, we proposed defect in melanosome transfer from melanocytes to keratinocytes may underlie the pathogenesis of DUH.