Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
Br J Dermatol. 2017 Oct;177(4):945-959. doi: 10.1111/bjd.15575. Epub 2017 Sep 27.
Reticulate pigmentary disorders are a group of disorders characterized by hyper- and/or hypopigmented macules with varying sizes and amounts of pigment. Some of the disorders are heritable, such as Dowling-Degos disease, dyschromatosis universalis hereditaria, dyschromatosis symmetrica hereditaria, reticulate acropigmentation of Kitamura and X-linked reticulate pigmentary disorder. Although each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat different, there is a large degree of overlap between the disorders and therefore they are difficult to differentiate in the clinical setting. This updated review provides a clinical and molecular delineation of these genetic reticulate pigmentary disorders and aims to establish a concise diagnostic strategy to allow clinical dermatologists to make an accurate diagnosis, as well as to provide useful information for clinical and genetic counselling.
网状色素沉着障碍是一组以大小和色素量不同的色素沉着和/或色素减退斑为特征的疾病。一些疾病是遗传性的,如 Dowling-Degos 病、遗传性全身性色素异常、遗传性对称性色素异常、Kitamura 的网状肢端色素沉着和 X 连锁的网状色素沉着障碍。虽然每种疾病都具有独特的表型特征,每种疾病的预后也有所不同,但这些疾病之间存在很大程度的重叠,因此在临床环境中很难区分。本综述更新了对这些遗传性网状色素沉着障碍的临床和分子描述,并旨在建立一种简洁的诊断策略,使临床皮肤科医生能够做出准确的诊断,并为临床和遗传咨询提供有用的信息。