Cutaneous mosaicisms: clinical phenotype of some genodermatoses and congenital skin defects

Abstract

Introduction: Skin genetic diseases and congenital anomalies are responsible for about 25% of the pediatric hospital admissions. Of these, 15% to 20% affect the skin and its appendages. In the province of Las Tunas, 22.22% of the genetic conditions present a cutaneous mosaicism pattern as clinical phenotype, which hampers their diagnosis.

Objective: Gain insight into the clinical characteristics of some genodermatoses and congenital skin anomalies manifesting cutaneous mosaicism.

Method: A bibliographic review was conducted in the databases SciELO, PubMed Central, MEDLINE, Clinical key, Orphanet and OMIM. The descriptors used were ""medical genetics", "genetic skin conditions", "congenital anomalies", "mosaicism", "melanosis" and "neurofibromatosis". Four books and 18 articles were citated during the review, with 90.91% updating in the last five years.

Data analysis and synthesis: An analysis was done of basic concepts related to genodermatosis, congenital anomalies and cutaneous mosaicisms, broadening knowledge about the clinical characteristics of some genodermatoses and congenital skin anomalies which may present cutaneous mosaicism, such as linear and whorled nevoid hypermelanosis, LEOPARD syndrome, neurocutaneous melanosis and segmental neurofibromatosis.

Conclusions: Progress in the field of human genetics has made it possible to gain insight into the clinical characteristics of genodermatoses and congenital skin anomalies, among them those following a cutaneous mosaicism pattern. Such knowledge not only facilitates diagnosis, but also leads to the appropriate treatment for each dermatosis.