Updated review of genetic reticulate pigmentary disorders

Summary 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. What's already known about this topic? Reticulate pigmentary disorders are a group of diseases characterized by mottled hyperpigmented and/or hypopigmented macules with distinct distribution and varying sizes and amounts of pigment. What does this study add? A comprehensive knowledge of genetic reticulate pigmentary disorders is essential for clinical and genetic counselling. This review provides a clinical and molecular delineation of these overlapping disorders, and aims to provide useful information that enables dermatologists to make a definitive diagnosis. Linked Comment: Betz. Br J Dermatol 2017; 177:893–894.