Hypopigmented genodermatoses

Abstract

Introduction: The genodermatoses are genetic illnesses that affect the skin. They have a low prevalence, poor therapeutic resources, and scarce knowledge about them, thus being considered rare diseases. Among them, we can mention those with pigmentation alterations and hypopigmentation, such as hypomelanosis of Ito, tuberous sclerosis, albinism, piebaldism, and Waardenburg syndrome. Those presenting hyper- and hypopigmentation are called didymosis.

Objective: To compile updated information about their characteristics and diagnostic criteria to facilitate the study and follow-up of these patients.

Method: A review of the literature available in SciELO, PubMed Central, Medline, and Hinari was carried out. The descriptors used were medical genetics and genetic dermatologic diseases. During the review process, 4 books and 21 articles published in the last 5 years were consulted.

Results: The classification of hypopigmented genodermatoses was reviewed. From these, the clinical characteristics, inheritance type, affected gene, diagnostic criteria, and complementary studies that allow diagnosis and differentiation were analyzed.

Conclusions: Knowing their characteristics and criteria allowed their diagnosis, differentiation, and improved patient follow-up.