Dermatological and Epidemiological Profiles of Patients with Albinism in São Paulo, Brazil, between 2010 and 2017: A Cross-Sectional Study.

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 the parents was confirmed by 26% of the patients. Unprotected sun exposure was reported by 109 (57.07%), and 138 (72.25%) had a history of sunburn. Of the 146 records with information, 38 had skin cancer (26%), with a mean age of 47.4 (p < 0.0001); the youngest patient diagnosed with a cutaneous tumor was 23 years old. The prevalence of actinic damage was high. There was information on solar elastosis and actinic keratosis in 148 medical records, of which 96 (64.8%) patients had elastosis and 75 (50.67%) keratoses. Elastosis, keratosis, and skin cancer were significantly associated with age, unprotected sun exposure, and sunburn (p < 0.05). Of the 37 (26% of the sample of 146) patients with a previous or current history of skin cancer, it was possible to identify the histological type in 29 (13 men and 16 women); of these, 18 (62%) were basal cell carcinomas (BCC), 15 (51%) were squamous cell carcinomas (SCC), and 2 (7%) were melanomas. Of these, 4 cases (14%) presented the 2 types of carcinoma (BCC and SCC), and the 2 that had a diagnosis of melanoma also had BCC. Some patients had multiple ulcerated tumors. The tumor site was preferentially in the head and neck (43%), trunk (37%) and limbs (20%). CONCLUSIONS: Albinos represent a risk group for skin cancer and other actinic lesions. These lesions were found to be prevalent in the albinos seen by the program and probably reflect the characteristics found in the Brazilian albino population. Access to health care, especially through multidisciplinary programs 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.

Sunscreen lotions in the dermatological prescription: review of concepts and controversies.

The skin is regularly exposed to several environmental aggressions, including solar radiation, whose biological effects can induce sunburn, dyschromia, skin aging and cancer. Among the photoprotection measures, sunscreens comprise a relevant part of the strategy aimed to prevent solar radiation damage and, for effective action, the patient must adhere to the product use and the latter, in turn, must follow technical parameters to promote adequate protection. This review article brings together the most current and relevant concepts about photoprotection for dermatological use, including the challenges for their formulation, the risks of certain photoprotective active substances for individual and environmental safety and the importance of stringency in determining the product efficacy, considering the regulatory aspects, highlighting relevant differences between Brazil and other countries. Thus, when assessing a sunscreen, not only the visual aspects and sensory perception will be immediately evaluated, but also the quality and suitability of the vehicle, the chemical composition of the formulation, the environmental risks, the photostability of the screening system, and the measurement of its protection spectrum. Technical knowledge of sunscreens can help dermatologists in this important role of educating patients about the best photoprotective strategies in each situation.

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.

Hermansky-Pudlak syndrome (HPS) associates oculocutaneous albinism and systemic affections including platelet dense granules anomalies leading to bleeding diathesis and, depending on the form, pulmonary fibrosis, immunodeficiency, and/or granulomatous colitis. So far, 11 forms of autosomal recessive HPS caused by pathogenic variants in 11 different genes have been reported. We describe three HPS-8 consanguineous families with different homozygous pathogenic variants in BLOC1S3 (NM_212550.3), one of which is novel. These comprise two deletions leading to a reading frameshift (c.385_403del, c.338_341del) and one in frame deletion (c.444_467del). All patients have moderate oculocutaneous albinism and bleeding diathesis, but other HPS symptoms are not described. One patient diagnosed with HPS-8 suffered from lymphocyte-predominant Hodgkin lymphoma. The mild severity of HPS-8 is consistent with other HPS forms caused by variants in BLOC-1 complex coding genes (HPS-7, DTNBP1; HPS-9, BLOC1S6, HPS-11, BLOC1S5).

Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors.

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.

Objective and subjective evaluation of the acoustic comfort in classrooms.

The acoustic comfort of classrooms in a Brazilian public school has been evaluated through interviews with 62 teachers and 464 pupils, measurements of background noise, reverberation time, and sound insulation. Acoustic measurements have revealed the poor acoustic quality of the classrooms. Results have shown that teachers and pupils consider the noise generated and the voice of the teacher in neighboring classrooms as the main sources of annoyance inside the classroom. Acoustic simulations resulted in the suggestion of placement of perforated plywood on the ceiling, for reduction in reverberation time and increase in the acoustic comfort of the classrooms.

Sunscreen lotions in the dermatological prescription: review of concepts and controversies

Abstract The skin is regularly exposed to several environmental aggressions, including solar radiation, whose biological effects can induce sunburn, dyschromia, skin aging and cancer. Among the photoprotection measures, sunscreens comprise a relevant part of the strategy aimed to prevent solar radiation damage and, for effective action, the patient must adhere to the product use and the latter, in turn, must follow technical parameters to promote adequate protection. This review article brings together the most current and relevant concepts about photoprotection for dermatological use, including the challenges for their formulation, the risks of certain photoprotective active substances for individual and environmental safety and the importance of stringency in determining the product efficacy, considering the regulatory aspects, highlighting relevant differences between Brazil and other countries. Thus, when assessing a sunscreen, not only the visual aspects and sensory perception will be immediately evaluated, but also the quality and suitability of the vehicle, the chemical composition of the formulation, the environmental risks, the photostability of the screening system, and the measurement of its protection spectrum. Technical knowledge of sunscreens can help dermatologists in this important role of educating patients about the best photoprotective strategies in each situation.

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.

Brazilian consensus on photoprotection.

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.

[Striae distensae in pregnancy: risk factors in primiparous women]. / Estrias de distensão na gravidez: fatores de risco em primíparas.

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 weight during pregnancy and/or those who had babies with higher birth weight. This study suggests that increased maternal age could be a protecting factor against striae during pregnancy.

Brazilian Consensus on Photoprotection

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.

Estrias de distensão na gravidez: estudo comparativo dos fatores de risco entre primíparas e maternidades do sistema público de saúde e particular / Strertch marks in pregnancy: a comparative study of risck factors among primiparae in private and public health system maternity hospitals

Introdução: Estrias de distensão são lesões cutâneas lineares, atróficas, bem definidas e secundárias a alteração do tecido conjuntivo.A etiologia parece ainda obscura. Objetivo: Avaliar e comparar os fatores de risco para a ocorrência de estrias de distensão, durante a gravidez, de primíparas, encontrados na maternidade do sistema público desaúde e de uma maternidade particular.Métodos: Estudo observacional, transversal, descritivo, com puérperas após 48 horas do parto atendidas durante quatro meses no sistema público de saúde e na maternidade par-ticular (n= 324).Resultados: Os fatores de risco, que apresentaram significância estatística, foram iguais para os dois grupos: idade materna e peso do recém-nascido. Das mulheres com 25 anos ou menos, 70,1% desenvolveram estrias durante a gestação, contra 29% das mulheres commais de 25 anos. E, quanto maior o peso do recém-nascido, maior a proporção de mulheres com estrias na gestação.Conclusões: As mulheres da rede pública desenvolveram mais estrias na gestação porqueeram mais jovens. Sendo assim, para a população em estudo, as mulheres com 31 anos ou mais apresentaram na idade fator de proteção para o surgimento de estrias na gestação. Assim como as mulheres cujos recém-nascidos apresentaram peso inferior a 3.500g.

Introduction: Stretch marks are linear, atrophic, and well-defined cutaneous lesions, secondary to modifications in the conjunctive tissue.Their etiology is unclear. Objective: To evaluate and compare risk factors for the occurrence of stretch marks during the first pregnancy of women who gave birth in public and private maternity hospitals. Methods: Observational, transversal, and descriptive study with puerperae 48 hours after giving birth. Observations were carried out for 4 months in the maternity hospital of the public health system and at the private maternity hospital (n = 324). Results: In both groups, maternal age and weight of the newborn were statistically significant risk factors. Of women aged 25 or less, 70.1% developed stretch marks during pregnancy, compared to 29.0% of women over 25.Likewise,the greater the baby's weight,the greater the risk of stretch marks. Conclusions: Women cared for in the public health system developed a greater number of stretch marks during pregnancy because they were younger.Among the study population, women aged 31 and older were less likely to develop stretch marks during pregnancy, as were those with babies weighing less than 3.5 kg

Estrias de distensão na gravidez: fatores de risco em primíparas / Striae distensae in pregnancy: risk factors in primiparous women

Fundamentos: Estrias ocorrem em mais de 70 por cento 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 por cento 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.

Background: Striae occur in over 70 percent 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 percent 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 weight during pregnancy and/or those who had babies with higher birth weight. This study suggests that increased maternal age could be a protecting factor against striae during pregnancy.

Correlação entre fotoproteção e concentrações de 25 hidroxi-vitamina D e paratormônio / Correlation between photoprotection and 25 hydroxyvitamin D and parathyroid hormone levels

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.

BACKGROUND - The great concern about skin cancer risk led to the dissemination of photoprotection in high scale. Nowadays the association of this recommendation and the risk of develop hypovitaminosis D is discussed. OBJECTIVE - To evaluate vitamin D storage in patients submitted to sun protection. METHODS - The levels of 25-hydroxyvitamin D (25OHD) and parathyroid hormone (PTH) were evaluated in groups of individuals living in the city of São Paulo who received or not orientation about photoprotection. RESULTS - Significant differences in 25OHD levels were found between the groups, being higher in the photoexposed group (35.40 ng/mL [21.86-72.20]) as compared to the photoprotected group (29.20 ng/mL [23.10-45.80]). There was also difference in PTH levels, being higher in the photoexposed group (29.80 pg/mL [18.98-73.94]) in comparison to the photoprotected group (19.24 pg/mL [8.06-66.18]). CONCLUSIONS - Despite these differences, there were no individuals presenting vitamin D deficiency in this sample and PTH levels were within normal range. The routine solar ultraviolet radiation was enough to promote appropriate synthesis of 25OHD.

Marcadores de envolvimento sistêmico no lúpus eritematoso crônico discóide / Markers of systemic involvement in chronic discoid lupus erythematosus

Objetivo: comparar as características clínicas e o perfil dos autoanticorpos entre o lúpus eritematoso crônico discóide (LECD) e o lúpus eritematoso sistêmico (LES), com o intuito de identificar algum marcador associado ao envolvimento sistêmico no LECD. Métodos: foram estudados 16 pacientes com LECD e comparados a 17 pacientes com LES, segundo os critérios do Colégio Americano de Reumatologia (ACR). Foram avaliadas as características demográficas, clínicas e pesquisados os seguintes autoanticorpos séricos, como fator antinúcleo (FAN), anti-DNA, anti-Sm, anti-Ro/SS-A, anti-La/SS-B, anti-ENA/RNP e anticardiolipina IgG e IgM. Nos pacientes com LECD foi realizada biópsia da pele e estudo histopatológico. Para comparação entre LES e LECD foi aplicado o teste do qui-quadrado. Foi considerado significativo p≤0,05. Resultados: pacientes com LECD tiveram idade e duração da doença significantemente mais longa do que os pacientes com LES (p<0,04). Não houve diferenças com relação ao número de critérios de diagnóstico de LES entre pacientes com LES e LECD. Entre os parâmetros clínicos, observouse associação da hipertensão arterial com a forma sistêmica de lúpus eritematoso (p<0,03). Entre os autoanticorpos pesquisados somente o autoanticorpo anti-DNA mostrou estar significantemente associado ao diagnóstico de LES (p<0,04). Conclusões: a análise dos dados clínicos e dos autoanticorpos no soro dos pacientes com LES e LECD identificaram hipertensão arterial e presença de anti-DNA no soro como os parâmetros que se mostraram associados ao envolvimento sistêmico no lúpus eritematoso.