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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 were reported in 3 patients from two Chinese families. All patients have prominent cutaneous dyschromatoses involving the whole body without systemic complications. Different pathogenic genes in these patients with similar phenotype were identified: One novel mutation on ADAR1 (c. 1325C>G) and one recurrent mutation in ABCB6 (c. 1270T>C), which successfully distinguished two diseases with the similar phenotype. CONCLUSION:Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases.

journal_name

Chin Med J (Engl)

journal_title

Chinese medical journal

authors

Liu JW,Asan.,Sun J,Vano-Galvan S,Liu FX,Wei XX,Ma DL

doi

10.4103/0366-6999.172564

subject

Has Abstract

pub_date

2016-01-05 00:00:00

pages

33-8

issue

1

eissn

0366-6999

issn

2542-5641

pii

ChinMedJ_2016_129_1_33_172564

journal_volume

129

pub_type

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