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.

Keywords: Albinism; Albinism, oculocutaneous; Keratosis, actinic; Skin neoplasms; Social stigma; Sunscreening agents.

Figure 1

Phenotype in albinism. Wide phenotypic variability among children with albinism.

Figure 2

Phenotype in albinism. Wide phenotypic variability among women with albinism.

Figure 3

Phenotype in albinism. Wide phenotype variability among men with albinism.

Figure 4

Actinic damage in albinism. Albino patients presenting actinic damage in photoexposed areas.

Figure 5

Sequelae of skin cancer. Albino patients with multiple scars and mutilations due to previous surgeries for excision of skin cancers.

Figure 6

Morbimortality associated with skin cancer. Young albino patient, presenting multiple ulcerated tumors. He died at age 27 due to metastatic squamous cell carcinoma.

Figure 7

Morbimortality associated with skin cancer. Young albino patient with multiple tumors (BCC and SCC) and surgical scars from previous excisions.

Figure 8

Cumulative solar damage – unprotected exposure. Elderly albino patient with multiple actinic damage in photoexposed areas. History of basal cell carcinoma and squamous cell carcinoma.

Figure 9

Treatment of the cancerization field. Albino patient with multiple actinic keratoses on the face. The image shows the result of treatment of the cancerization field with 5-fluorouracil.

Figure 10

Treatment of actinic damage. Albino patient with multiple actinic keratoses and solar lentigines treated with cryotherapy.