Pigmentary disorders of the eyes and skin.

Syril Keena T Que, Gillian Weston, Jeanine Suchecki, Janelle Ricketts

Journal: Clinics in dermatology 2015;33(2):147-58

PMID: 25704935

Full Text on Elsevier Science View on PubMed

Abstract

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.

Address: Department of Dermatology, University of Connecticut Health Center, 21 South Road, Farmington, CT 06032.; Department of Ophthalmology, University of Connecticut Health Center, 21 South Road, Farmington, CT 06032.; Department of Dermatology, University of Connecticut Health Center, 21 South Road, Farmington, CT 06032. Electronic address: [email protected].

DOI: 10.1016/j.clindermatol.2014.10.007

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MeSH Terms: Eye Diseases, Female, Humans, Male, Pigmentation Disorders, Skin Diseases, Syndrome