Brazil is a country of continental dimensions with a large heterogeneity of climates and massive mixing of the population. Almost the entire national territory is located between the Equator and the Tropic of Capricorn, and the Earth axial tilt to the south certainly makes Brazil one of the countries of the world with greater extent of land in proximity to the sun. The Brazilian coastline, where most of its population lives, is more than 8,500 km long. Due to geographic characteristics and cultural trends, Brazilians are among the peoples with the highest annual exposure to the sun. Epidemiological data show a continuing increase in the incidence of non-melanoma and melanoma skin cancers. Photoprotection can be understood as a set of measures aimed at reducing sun exposure and at preventing the development of acute and chronic actinic damage. Due to the peculiarities of Brazilian territory and culture, it would not be advisable to replicate the concepts of photoprotection from other developed countries, places with completely different climates and populations. Thus the Brazilian Society of Dermatology has developed the Brazilian Consensus on Photoprotection, the first official document on photoprotection developed in Brazil for Brazilians, with recommendations on matters involving photoprotection.
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.
Introduction: Oculocutaneous albinism is an autosomal recessive disease caused by complete absence of or decrease in 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 greater risk of actinic damage and skin cancer. There are no epidemiological data on the incidence of albinism in Brazil. Objective: To analyze the clinical and epidemiological profile of patients with albinism treated by the Pró-Albino Program of the Dermatology Clinic of Santa Casa de Misericórdia from its beginning in 2010 until 2017. Methods: In this cross-sectional study, the records of all consecutive albino patients admitted to the service in the study period were reviewed. Sociodemographic data, family history, and dermatological clinical data were collected. Results: Between March 2010 and April 2017, 191 patients were admitted, of whom 109 were female (57.07%) and the age range was 0-92 years, with > 30% under the age of 18 years. Consanguinity among that enable the diagnosis and early treatment of these lesions, health education, and the use of photoprotective measures can reduce morbidity and mortality and improve the quality of life of patients with this rare genetic condition.
Resumo: FUNDAMENTOS: Estrias ocorrem em mais de 70% das gestantes. Elas tendem a se desenvolver a partir da 25ª semana gestacional. Apesar de sua etiologia não ser bem compreendida, aceita-se que a combinação de fatores genéticos com alterações endócrinas e estiramento mecânico da pele tem papel significante. Em função dos diferentes resultados encontrados na literatura, os autores avaliaram os fatores de risco comumente citados com o objetivo de determinar se estão associados com a ocorrência de estrias na gestação. OBJETIVO: Avaliar em primíparas os supostos fatores de risco para o aparecimento de estrias. MÉTODOS: Estudo observacional transversal não controlado e descritivo em primíparas. O período avaliado foi de quatro meses (janeiro a maio de 2008), em uma maternidade pública. Foram incluídas 164 primíparas de feto único após 48 horas do parto. Um total de 14 variáveis foi registrado em cada paciente. RESULTADOS: Das 164 mulheres em estudo, 59,8% desenvolveram estrias durante a gestação. Foi estatisticamente significante a associação entre a faixa etária materna (p < 0,01), o peso materno adquirido durante a gestação (p < 0,01) e o peso de recém-nascido (p = 0,01) com o aparecimento de estrias na gestação. O teste de associação utilizado foi o qui-quadrado. CONCLUSÃO: As estrias foram mais frequentes em pacientes mais jovens, nas que adquiriram maior peso na gestação e/ou nas que deram à luz bebês mais pesados. Este estudo sugere que a idade materna mais avançada poderia ser um fator protetor contra a presença de estrias na gestação. Palavras-chave: Derme; Estrias angioides; Fatores de risco; Gravidez; Primíparas Abstract: BACKGROUND: Striae occur in over 70% of pregnant women and tend to develop after 25 weeks of gestation. Despite the fact that their etiology has not yet been fully understood, it is accepted that a combination of genetic factors, endocrine alterations and mechanical stretching of skin play a significant role. Due to different results reported in the literature, the authors assessed commonly cited risk factors to determine whether they are associated with the development of striae in pregnancy. OBJECTIVE: To assess hypothetical risk factors for the development of striae in primiparous women. METHODS: This was a cross-sectional, observational, non-controlled, descriptive study with primiparous women. The study was conducted in a public maternity unit and lasted for four months (from January to May 2008). 164 primiparous women who had had a single fetus pregnancy took part in the study 48 hours after delivery. Fourteen variables were recorded for each patient. RESULTS: From the total sample, 59.8% developed striae during pregnancy. The association of maternal age range (p < 0,01), maternal weight gain during pregnancy (p < 0,01) and birth weight of newborn infants (p = 0,01) with the development of striae during pregnancy was statistically significant. The chisquared test of association was used. CONCLUSIONS: Striae were more frequently observed in younger women, in those who gained more we...
FUNDAMENTOS- A preocupação com o risco de câncer da pele levou à difusão da fotoproteção em larga escala, e atualmente se discute se haveria, associado a essa recomendação, risco para o desenvolvimento de hipovitaminose D. OBJETIVOS - Avaliar em pacientes orientados para proteção solar, o estado atual de seu estoque de vitamina D. MÉTODOS - Avaliaram-se as concentrações de 25 hidroxivitamina D (25OHD e do hormônio da paratireóide (PTH) em grupos de indivíduos com e sem orientação para fotoproteção, moradores da cidade de São Paulo. RESULTADOS - Encontrou-se diferença significativa entre os níveis de 25OHD, maiores no grupo fotoexposto, 35,4ng/mL [21,86- 72,20], em relação ao fotoprotegido, 29,2ng/mL [23,10-45,80]. Também houve diferença com relação ao PTH, maior no grupo fotoexposto, 29,8pg/mL [18,98-73,94], do que no fotoprotegido, 19,24pg/mL [8,06-66,18]. CONCLUSÕES - Apesar dessas diferenças, não havia indivíduos deficientes de vitamina D nessa amostra, e os níveis de PTH mantiveram- se dentro dos valores de normalidade. A radiação ultravioleta solar do cotidiano foi suficiente para promover uma síntese adequada de 25OHD.
Hermansky-Pudlak syndrome (HPS) was first described in 1959 in two patients with oculocutaneous albinism (OCA), prolonged bleeding, and pigmented macrophages in the bone marrow. To date, 11 HPS subtypes are reported and associated with 11 causative genes (Huizing et al., 2020; Pennamen et al., 2020). HPS genes encode subunits of BLOC complexes (Biogenesis of Lysosome-related Organelle Complexes), and pathogenic variants of these genes induce abnormal biogenesis of lysosome-like organelles, such as melanosomes
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