Ultrastructural Investigations in an Autosomal Recessively Inherited Case of Dyschromatosis Universalis Hereditaria.

Abstract

© 2015 The Authors. doi: 10.2340/00015555-2030 Journal Compilation © 2015 Acta Dermato-Venereologica. ISSN 0001-5555 The dyschromatoses are a group of rare genodermatoses characterised by the presence of asymptomatic mottled hyperpigmented macules admixed with variably sized hypopigmented macules (1). Dyschromatoses are divided into dyschromatosis symmetrica hereditaria (DSH) and dyschromatosis universalis hereditaria (DUH). DUH is clinically diagnosed on the basis of widely distributed small hypoand hyperpigmented lesions with appearance in infancy or early childhood and progression until stagnation before adolescence (2). This division got highlighted recently by the detection of specific mutations in ADAR1/ DSRAD and ABCB6 genes in DSH and DUH, respectively (1, 3). First reported from Japan, DUH has subsequently been reported from several regions of the world as a generalised leucomelanoderma relatively sparing the face, palms and soles. It is usually transmitted in an autosomal dominant (AD) pattern with variable penetrance, with very few autosomal recessive (AR) and even sporadic cases reported (4, 5). In this study, we present ultrastructural findings in a case of DUH, with probable AR transmission.