Inherited Reticulate Pigmentary Disorders

Abstract

Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigmented and/or hypopigmented macules. Inherited RPDs include dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), reticulate acropigmentation of Kitamura (RAK), Dowling-Degos disease (DDD), dyskeratosis congenita (DKC), Naegeli-Franceschetti-Jadassohn syndrome (NFJS), dermatopathia pigmentosa reticularis (DPR), and X-linked reticulate pigmentary disorder. Although reticulate pattern of pigmentation is a common characteristic of this spectrum of disorders, the distribution of pigmentation varies among these disorders, and there may be clinical manifestations beyond pigmentation. DSH, DUH, and RAK are mostly reported in East Asian ethnicities. DDD is more common in Caucasians, although it is also reported in Asian countries. Other RPDs show no racial predilection. This article reviews the clinical, histological, and genetic variations of inherited RPDs.

Keywords: Dowling-Degos disease; Naegeli–Franceschetti–Jadassohn syndrome; X-linked reticulate pigmentary disorder; dermatopathia pigmentosa reticularis; dyschromatosis symmetrica hereditaria; dyschromatosis universalis hereditaria; dyskeratosis congenita; reticulate acropigmentation of Kitamura.

Figure 1

Clinical photos of a patient with dyschromatosis universalis hereditaria with generalized symmetrically distributed hypopigmented and hyperpigmented macules of varying size on (A) chest, (B) back, and (C) lower extremities.