Mesh : Diagnosis, Differential Dyskeratosis Congenita / diagnosis genetics therapy Early Diagnosis Epidermolysis Bullosa Dystrophica / diagnosis genetics therapy Humans Hyperpigmentation / diagnosis genetics therapy Mutation / genetics Phenotype Pigmentation Disorders / congenital genetics Skin Diseases, Genetic / diagnosis genetics therapy Skin Diseases, Papulosquamous / diagnosis genetics therapy Tumor Suppressor Proteins / genetics

来  源:   DOI:10.1111/bjd.15575

Abstract:
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.
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