Incontientia Pigmenti: a genodermatosis beginning in childhood

Abstract

Introduction: incontinentia pigmenti is a dominant inheritance genodermatosis, with an approximate incidence of 1 per 50 000 live births, with 27.6 new cases per year. Objective: to describe the main clinical and histopathological characteristics of pigment incontinence, as well as the available treatment lines. Methods: a bibliographic review was carried out in the period from January to February 2021 in the PubMed, SciElo, Medline, Science Direct, Medigraphic and Scopus databases. The keywords used were: "Chromosomes, Human, X"; "Skin Diseases"; "Genetic Diseases"; "Rare Diseases"; “Heredity” and "Incontinentia Pigmenti ", as well as their Spanish translations. A total of 24 bibliographic sources were selected. Development: incontinentia pigmenti is a disease caused by mutations in the X chromosome. The findings in the skin are observed by apoptosis of mutated cells and are usually associated with alterations in the eyes, nails, hair, teeth, skeleton, the heart and central nervous system. Conclusions: the clinical characteristics of pigmenti incontinence were described, which is a rare genetic disease with onset, mainly in childhood and often underdiagnosed due to the existing clinical similarity with other diseases. Histopathological characteristics differ depending on the clinical stage and do not require specific treatment.

Keywords

• cromosomas humanos x
• enfermedades de la piel
• enfermedades genéticas congénitas
• enfermedades raras
• herencia
• incontinencia pigmentaria