ABSTRACT
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.
Subject(s)
Humans , Male , Female , Albinism/genetics , Albinism/pathology , Skin Neoplasms/etiology , Skin Neoplasms/physiopathology , Ultraviolet Rays/adverse effects , Brazil/epidemiology , Carcinoma, Basal Cell/etiology , Carcinoma, Basal Cell/pathology , Carcinoma, Squamous Cell/etiology , Carcinoma, Squamous Cell/pathology , Albinism/complications , Albinism/epidemiology , Prevalence , Risk Factors , Keratosis, Actinic/etiology , Keratosis, Actinic/pathology , Melanins/deficiencyABSTRACT
Entre los Tule (Kuna) de Panamá y Colombia, se observa una de las incidencias mayores del albinismo a nivel mundial (1/150). Al darse una larga tradicion de tentativas de erradicacion del gen patológico, esta concentración resulta insolita, sobre todo si consideramos que el medio ambiente es también hostil, y la esperanza de vida del albino en las islas es de más o menos 30 años. La eliminacion de los factores socio-culturales tendientes a hacer desaparecer el fenomeno (infanticidio,prohibicion del matrimonio) bajo presiones exogenas obvias, combinada al hecho social que los matrimonios exógamos resultan todavía marginales, hace suponer la proliferación del gen patógeno entre los Tule cuya consecuencia podría ser la debilitación del grupo etnico en mención.
Subject(s)
Humans , Albinism/genetics , Indians, Central American/genetics , PanamaABSTRACT
Se trata de una enfermedad rara, sistémica, letal; carga hereditaria autosómica recesiva, caracterizada por albinismo oculocutáneo, infecciones frecuentes piogénicas, gránulos muy grandes, semejantes a lisomonas, en la mayoría de las células que contienen gránulos. Se ven más fácilmente en los granulocitos sanguíneos y medulares. En un elevado número de matrimonios que tienen hijos con esta afección, se comprobó consanguinidad