Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing.

ABSTRACT:

Background

The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria are two major types. While clinical and histological presentations are similar in these two diseases, genetic diagnosis is critical in the differential diagnosis of these entities.

Methods

Three patients initially diagnosed with DUH were included. The gene test was carried out by targeted gene sequencing. All mutations detected on ADAR1 and ABCB6 genes were analyzed according to the frequency in control database, the mutation types, and the published evidence to determine the pathogenicity.

Results

Family pedigree and clinical presentations

SUBMITTER: Liu JW 

PROVIDER: S-EPMC4797540 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature