Updated Review of Genetic Reticulate Pigmentary Disorders

J. Zhang; M. Li; Z. Yao

Disclosures

The British Journal of Dermatology. 2017;177(4):945-959. 

In This Article

Abstract and Introduction

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.

Introduction

Reticulate pigmentary disorders are a group of disorders characterized by hyperpigmented and/or hypopigmented macules with varying degrees of pigment and size. Some of these disorders are inherited, such as Dowling-Degos disease (DDD; OMIM 179850, 615696 and 615327), dyschromatosis universalis hereditaria (DUH; OMIM 127500), dyschromatosis symmetrica hereditaria (DSH; OMIM 127400), reticulate acropigmentation of Kitamura (RAK; OMIM 615537), and X-linked reticulate pigmentary disorder (XLRPD; OMIM 301220). Although each condition possesses unique phenotypic characteristics (e.g. age at onset, distribution of the skin lesions, and pathological findings), they still overlap greatly. Here, we provide a clinical and molecular overview of these genetic reticulate pigmentary disorders (Table 1), and aim to provide a diagnostic strategy to allow clinical dermatologists to make an accurate diagnosis.

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