RESUMO
Oculocutaneous albinism (OCA) is a genetic disease caused by disorders in melanin synthesis or distribution. In this descriptive study conducted in a tertiary care pediatric hospital, patients with a clinical diagnosis of OCA and genetic study were retrospectively recruited and underwent dermatological and ophthalmological exam, including optical coherence tomography (OCT) and digital dermoscopy. Our findings revealed milder OCA phenotypic expression in individuals harboring single pathogenic mutations in conjunction with polymorphisms, as well as in those with mutations of uncertain significance. Regardless OCA subgroup, severe phenotypes of OCA were associated with a higher number of mutations/polymorphisms in melanin biosynthesis genes and paler dermoscopic patterns, such as vascular pattern, which was the most common pattern in our series.
Assuntos
Albinismo Oculocutâneo , Melaninas , Humanos , Criança , Melaninas/genética , Estudos Retrospectivos , Mutação , Fenótipo , Albinismo Oculocutâneo/genética , Albinismo Oculocutâneo/diagnóstico , Albinismo Oculocutâneo/patologiaRESUMO
El artículo recoge de una manera descriptiva y didáctica los aspectos etiopatogénicos más importantes de Mycobacterium marinum como agente productor de lesiones dermatológicas, mediante la descripción de 2 casos ocurridos en el Hospital de Mérida. Así mismo, se describen tanto la actitud diagnóstica, como el diagnóstico diferencial, las lesiones y el tratamiento de esta microbacteria con el fin de procesar y manejar mejor los futuros casos que se lleguen a presentar (AU)
This article presents a descriptive and instructive review of the most important a etiological and pathogenic features of Mycobacterium marinum as a causative agent of dermatological lesions, using the reporting of two cases occurring in the Hospital de Merida. The differential diagnosis, lesions and treatment of these types of infections are also discussed, so that future cases may be diagnosed earlier and treated appropriately (AU)
