Updated review of genetic reticulate pigmentary disorders

Br J Dermatol. 2017 Oct;177(4):945-959. doi: 10.1111/bjd.15575. Epub 2017 Sep 27.


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.

Publication types

  • Review

MeSH terms

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


  • SASH1 protein, human
  • Tumor Suppressor Proteins

Supplementary concepts

  • Dowling-Degos Disease
  • Dyschromatosis universalis hereditaria