Dyschromatosis Universalis Hereditaria 2

Description

Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013).

For a discussion of genetic heterogeneity of dyschromatosis universalis hereditaria, see DUH1 (127500).

Clinical Features

Bukhari et al. (2006) reported a consanguineous Saudi Bedouin family in which 2 boys and 2 girls had dyschromatosis universalis hereditaria (DUH). The sibs presented during infancy or early childhood with multiple asymptomatic 2- to 5-mm maculae that were hypopigmented, depigmented and hyperpigmented, bilaterally symmetric, and scattered all over the body including the back, hands, feet, and face. The palms and soles, mucous membranes, teeth, and nails appeared normal. The hair appeared normal but was light brown, in contrast to unaffected family members who had black hair. Histologic investigation of a skin biopsy from the hyperpigmented lesion of 1 of the affected boys showed basal layer hypermelanosis with pigmentary incontinence in some areas. The paternal grandmother was also reportedly affected.

Inheritance

The transmission pattern of DUH in the family reported by Bukhari et al. (2006) was consistent with autosomal recessive inheritance.

Mapping

By genomewide analysis of a Saudi Bedouin family with DUH reported by Bukhari et al. (2006), Stuhrmann et al. (2008) found linkage of the disorder to an 18.9-cM region on chromosome 12q21-q23 between SNPs rs1921045 and rs2373584 (maximum lod score of 3.4). Molecular analysis excluded mutations in the ADAR gene (146920).