Pigmentary disorders of the eyes and skin

Clin Dermatol. 2015 Mar-Apr;33(2):147-58. doi: 10.1016/j.clindermatol.2014.10.007.


Oculocutaneous albinism, Menkes syndrome, tuberous sclerosis, neurofibromatosis type 1, dyskeratosis congenita, lentiginosis profusa syndrome, incontinentia pigmenti, and Waardenburg syndrome all are genodermatoses that have well established gene mutations affecting multiple biological pathways, including melanin synthesis, copper transport, cellular proliferation, telomerase function, apoptosis, and melanocyte biology. Onchocerciasis results from a systemic inflammatory response to a nematode infection. Hypomelanosis of Ito is caused by chromosomal mosaicism, which underlies its phenotypic heterogeneity. Incomplete migration of melanocytes to the epidermis and other organs is the underlying feature of nevus of Ota. Vogt-Koyangi-Harada and vitiligo have an autoimmune etiology; the former is associated with considerable multiorgan involvement, while the latter is predominantly skin-limited.

Publication types

  • Review

MeSH terms

  • Eye Diseases / diagnosis
  • Eye Diseases / epidemiology*
  • Eye Diseases / genetics
  • Female
  • Humans
  • Male
  • Pigmentation Disorders / diagnosis
  • Pigmentation Disorders / epidemiology*
  • Pigmentation Disorders / genetics
  • Skin Diseases / diagnosis
  • Skin Diseases / epidemiology*
  • Skin Diseases / genetics
  • Syndrome