Liu Jia-Wei, Sun Jun, Vano-Galvan Sergio, Liu Feng-Xia, Wei Xiu-Xiu, Ma Dong-Lai
Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Chin Med J (Engl). 2016 Jan 5;129(1):33-8. doi: 10.4103/0366-6999.172564.
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.
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.
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.
Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases.
色素沉着异常是一组以同时出现色素沉着斑和色素减退斑为特征的疾病。泛发性遗传性色素沉着异常（DUH）和对称性遗传性色素沉着异常是两种主要类型。虽然这两种疾病的临床和组织学表现相似，但基因诊断在这些疾病的鉴别诊断中至关重要。
纳入3例最初诊断为DUH的患者。通过靶向基因测序进行基因检测。根据对照数据库中的频率、突变类型和已发表的证据，对在ADAR1和ABCB6基因上检测到的所有突变进行分析，以确定其致病性。
报告了来自两个中国家庭的3例患者的家系和临床表现。所有患者均有累及全身的明显皮肤色素沉着异常，无全身并发症。在这些具有相似表型的患者中鉴定出不同的致病基因：ADAR1上的一个新突变（c.1325C>G）和ABCB6上的一个复发性突变（c.1270T>C），这成功地区分了两种具有相似表型的疾病。
靶向基因测序是色素性皮肤病基因诊断的有效工具。
