Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors

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.

Asociación de Albinismo oculocutáneo-ictiosis / Oculocutaneous albinism and ichthyosis association

Objetivo. Describir el caso de una adolescente femenina de 18 años de edad, la cual presentaba dos genodermatosis: albinismo oculocutáneo e ictiosis vulgar. Caso clínico. La paciente mostró retardo en el desarrollo neurológico durante su infancia. No se encontraron antecendentes de padecimiento similar en otros miembros de la familia. El diagnóstico de albinismo e ictiosis fue confirmado por el estudio de fondo de ojo y el histopatológico. El iris de la paciente era translúcido y presentaba hipopigmentación de fondo de ojo; histopatológicamente con hiperqueratosis moderada sin paraqueratosis, con formación de grandes tapones queratósicos, sin presencia de acantosis. Conclusión. El presente caso corresponde clínica e histopatológicamente a albinismo oculotáneo con ictiosis vulgar, sin antecedentes de padecimiento similar en otros miembros de la familia