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.

Melanoblasts Populate the Mouse Choroid Earlier in Development Than Previously Described

“…Nystagmus may be present at birth or develop later in life, and there is a decrease in visual acuity caused by foveal hypoplasia. The B6(Cg)-Tyrc-2J/J albino mice, like the human equivalent, do not lack melanocytes, as is evident by this and many other studies 36 , 37 ; instead, they lack the enzymes required in the latter stages of melanogenesis. Because the mouse has no macula, fovea, or area centralis and possesses monocular vision with few uncrossed fibers, 38 the retinal abnormalities and abnormal optic nerve decussation defects, described in severe forms of human albinism, are unlikely to be present in the B6(Cg)-Tyrc-2J/J albino mice and to affect the development of MB migration in the choroid, as described in the present study.…”

“…Various types of albinism are known to be linked to development defects in humans, including abnormal decussation, retinal ganglion cell maturation, and fovea–macula formation. 36 In this study, we made use of B6(Cg)-Tyrc-2J/J albino mice, a tyrosinase knockout mouse on a B6 background. The human equivalent disorder, oculocutaneous albinism type 1A, is caused by a mutation in TYR gene located on chromosome 11q14.2 encoding tyrosinase.…”

Reactions to and explanations for the birth of a baby with albinism: a qualitative study in Busoga, Uganda

“…The resulting hypo-pigmented (lighter) skin, hair and eyes makes individuals with albinism highly visible and extremely sensitive to the harmful effects of the sun, with an increased risk of skin cancers. 4 In equatorial and tropical regions of Africa, they must take particular care to avoid sun exposure, placing additional restrictions on their daily lives. Albinism also impacts on visual acuity, with effects such as photophobia, strabismus and involuntary nystagmus leading to visual impairment.…”

Tumores de pele sincrônicos em paciente albino: relato de caso / Synchronous and invasive cutaneous skin cancer in an albino patient: case report

“…No Brasil, devido à escassez de informações nos bancos de dados do governo como o censo do Instituto Brasileiro de Geografia e Estatística (IBGE) ou Banco de Dados do Sistema Nacional de Saúde (DATASUS), a epidemiologia sobre albinismo é deficitária, assim como o baixo número de estudos epidemiológicos sobre essa patologia (5).…”