Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors

Detalhes bibliográficos
Autor(a) principal: Marçon,Carolina Reato
Data de Publicação: 2019
Outros Autores: Maia,Marcus
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Anais brasileiros de dermatologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962019000500503
Resumo: 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.
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spelling Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factorsAlbinismAlbinism, oculocutaneousKeratosis, actinicSunscreening agentsSkin neoplasmsSocial stigmaAbstract 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.Sociedade Brasileira de Dermatologia2019-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962019000500503Anais Brasileiros de Dermatologia v.94 n.5 2019reponame:Anais brasileiros de dermatologia (Online)instname:Sociedade Brasileira de Dermatologia (SBD)instacron:SBD10.1016/j.abd.2019.09.023info:eu-repo/semantics/openAccessMarçon,Carolina ReatoMaia,Marcuseng2019-12-05T00:00:00Zoai:scielo:S0365-05962019000500503Revistahttp://www.anaisdedermatologia.org.br/https://old.scielo.br/oai/scielo-oai.phpabd@sbd.org.br||revista@sbd.org.br1806-48410365-0596opendoar:2019-12-05T00:00Anais brasileiros de dermatologia (Online) - Sociedade Brasileira de Dermatologia (SBD)false
dc.title.none.fl_str_mv Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors
title Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors
spellingShingle Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors
Marçon,Carolina Reato
Albinism
Albinism, oculocutaneous
Keratosis, actinic
Sunscreening agents
Skin neoplasms
Social stigma
title_short Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors
title_full Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors
title_fullStr Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors
title_full_unstemmed Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors
title_sort Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors
author Marçon,Carolina Reato
author_facet Marçon,Carolina Reato
Maia,Marcus
author_role author
author2 Maia,Marcus
author2_role author
dc.contributor.author.fl_str_mv Marçon,Carolina Reato
Maia,Marcus
dc.subject.por.fl_str_mv Albinism
Albinism, oculocutaneous
Keratosis, actinic
Sunscreening agents
Skin neoplasms
Social stigma
topic Albinism
Albinism, oculocutaneous
Keratosis, actinic
Sunscreening agents
Skin neoplasms
Social stigma
description 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.
publishDate 2019
dc.date.none.fl_str_mv 2019-10-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1016/j.abd.2019.09.023
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dc.publisher.none.fl_str_mv Sociedade Brasileira de Dermatologia
publisher.none.fl_str_mv Sociedade Brasileira de Dermatologia
dc.source.none.fl_str_mv Anais Brasileiros de Dermatologia v.94 n.5 2019
reponame:Anais brasileiros de dermatologia (Online)
instname:Sociedade Brasileira de Dermatologia (SBD)
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instname_str Sociedade Brasileira de Dermatologia (SBD)
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reponame_str Anais brasileiros de dermatologia (Online)
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