RESUMEN
Abstract Oculocutaneous albinism is an autosomal recessive disease caused by the complete absence or decrease of melanin biosynthesis in melanocytes. Due to the reduction or absence of melanin, albinos are highly susceptible to the harmful effects of ultraviolet radiation and are at increased risk of actinic damage and skin cancer. In Brazil, as in other parts of the world, albinism remains a little known disorder, both in relation to epidemiological data and to phenotypic and genotypic variation. In several regions of the country, individuals with albinism have no access to resources or specialized medical care, and are often neglected and deprived of social inclusion. Brazil is a tropical country, with a high incidence of solar radiation during the year nationwide. Consequently, actinic damage and skin cancer occur early and have a high incidence in this population, often leading to premature death. Skin monitoring of these patients and immediate therapeutic interventions have a positive impact in reducing the morbidity and mortality associated with this condition. Health education is important to inform albinos and their families, the general population, educators, medical professionals, and public agencies about the particularities of this genetic condition. The aim of this article is to present a review of the epidemiological, clinical, genetic, and psychosocial characteristics of albinism, with a focus in skin changes caused by this rare pigmentation disorder.
Asunto(s)
Humanos , Masculino , Femenino , Albinismo/genética , Albinismo/patología , Neoplasias Cutáneas/etiología , Neoplasias Cutáneas/fisiopatología , Rayos Ultravioleta/efectos adversos , Brasil/epidemiología , Carcinoma Basocelular/etiología , Carcinoma Basocelular/patología , Carcinoma de Células Escamosas/etiología , Carcinoma de Células Escamosas/patología , Albinismo/complicaciones , Albinismo/epidemiología , Prevalencia , Factores de Riesgo , Queratosis Actínica/etiología , Queratosis Actínica/patología , Melaninas/deficienciaRESUMEN
Os autores fazem o relato de caso de carcoma de células claras na axila, o melanoma maligno de partes moles. A evoluçäo do paciente para a metastatizaçäo intensa foi extremamente rápida. Houve dificuldade no estabelecimento do diagnóstico pela situaçäo incomum de apresentaçäo do tumor e pela raridade da patologia. Apresentaram revisäo da literatura sobre este tumor, nos seus aspectos clínicos e anatomopatológicos.
Asunto(s)
Humanos , Masculino , Adulto , Inmunohistoquímica , Melaninas/deficiencia , Melanoma/patologíaRESUMEN
Se presentan dos niños con características clínicas e histológicas compatibles con Hipomelanosis de Ito. El primero un varón de 4 años de edad con afectación solamente cutánea, el segundo una niña de 13 años, que asocia a las típicas lesiones dermatológicas, otras de índole general como: retardo mental y psicomotriz. Asimetría de miembros; clínodactilia bilateral; escoliosis. Obesidad. Hipertelorismo. Prognatismo; foria; etc. Hallándose a nivel del electroencefalograma "desorganización de la actividad bio-eléctrica cortical". Se realiza una revisión de la literatura y la comparación de los rasgos similares y diferentes entre esta entidad y la incontinencia pigmentaria de Block Sulzberger, como así con el Nevo Despigmentado Congénito