Inherited Reticulate Pigmentary Disorders

Genes (Basel). 2023 Jun 20;14(6):1300. doi: 10.3390/genes14061300.


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.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Hyperpigmentation* / genetics
  • Hyperpigmentation* / pathology
  • Skin Diseases, Genetic* / genetics

Supplementary concepts

  • Dowling-Degos Disease
  • Dyschromatosis symmetrica hereditaria 1
  • Dyschromatosis universalis hereditaria

Grants and funding

This study was supported by grants from the Taiwan National Science and Technology Council (MOST-110-2628-B-037-007 and NSTC-111-2314-B-037-042) to S.Y. and grants from Kaohsiung Medical University Hospital (KMUH110-0R61 and KMUH111-1R59) to S.Y.