The assessment of the impact of dermatoses on patients' quality of life is important for clinical management. It is essential to detect patients at higher risk of experiencing worse quality of life in order to treat them in a more integrated way.

BackgroundSegmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase involved in mitochondrial oxidative phosphorylation (OXPHOS) and programmed cell death.MethodsWe characterized the X-chromosomal abnormality encompassing HCCS or an intragenic mutation in this gene in six new female patients with an MLS phenotype by cytogenetic analysis, fluorescence in situ hybridization, sequencing, and quantitative real-time PCR. The X chromosome inactivation (XCI) pattern was determined and clinical data of the patients were reviewed.ResultsTwo terminal Xp deletions of ≥11.2 Mb, two submicroscopic copy number losses, one of ~850 kb and one of ≥3 Mb, all covering HCCS, 1 nonsense, and one mosaic 2-bp deletion in HCCS are reported. All females had a completely (>98:2) or slightly skewed (82:18) XCI pattern. The most consistent clinical features were microphthalmia/anophthalmia and sclerocornea/corneal opacity in all patients and congenital linear skin defects in 4/6. Additional manifestations included various ocular anomalies, cardiac defects, brain imaging abnormalities, microcephaly, postnatal growth retardation, and facial dysmorphism. However, no obvious clinical sign was observed in three female carriers who were relatives of one patient.ConclusionOur findings showed a wide phenotypic spectrum ranging from asymptomatic females with an HCCS mutation to patients with a neonatal lethal MLS form. Somatic mosaicism and the different ability of embryonic cells to cope with an OXPHOS defect and/or enhanced cell death upon HCCS deficiency likely underlie the great variability in phenotypes.

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FUNDAMENTOS: A incidência das neoplasias malignas cutâneas vem aumentando em todo o mundo, havendo pouca informação no Brasil sobre seus marcadores e suas lesões precursoras. OBJETIVOS: Identificar fatores de risco e marcadores cutâneos para essas lesões MÉTODOS: Caso-controle aninhado num estudo de prevalência de base populacional com adultos com idade igual ou superior a 50 anos, moradores da zona urbana de Pelotas. No estudo de prevalência aplicou-se um questionário com questões específicas para rastreamento de possíveis lesões cutâneas malignas ou pré-malignas recentes. As pessoas que responderam afirmativamente foram examinadas por dois médicos especialistas (padrão ouro). Uma subamostra daqueles que responderam não às perguntas já mencionadas foi sorteada e também foi examinada. A amostra total ficou constituída por 288 pessoas: 74 casos positivos, conforme o padrão ouro, e 214 controles sem lesões. O número e o tipo de lesão foram avaliados no momento da consulta com os especialistas. O protocolo continha variáveis sociodemográficas, comportamentais e exame dermatológico. A medida de efeito utilizada foi o Odds Ratio (OR), e para o controle dos fatores de confusão utilizou-se a regressão logística, com modelo hierarquizado RESULTADOS: Na análise multivariada permaneceram significativas as seguintes variáveis: idade 80 anos OR=10,21, pele branca OR=4,85, cabelos loiros/vermelhos OR= 3,69; como marcadores de risco: elastose solar OR=4,35, cutis rhomboidalis nuchae OR= 2,88 e mais de 10 melanoses solares no dorso das mãos OR= 6. CONCLUSÃO: Pessoas idosas, com pele clara, cabelos claros, com elastose solar, cutis rhomboidalis nuchae e grande número de melanoses solares nas mãos têm maior risco de apresentar queratoses actínicas e carcinomas basocelulares.

Descritores ResumoObjetivo O melanoma tem incidência crescente, sendo que a prevalência dos tumores malignos epiteliais é alta, e o diagnóstico precoce contribui significativamente para a redução da morbimortalidade dessas doenças. O objetivo da pesquisa é medir a prevalência das lesões cutâneas pré-malignas e malignas e determinar a sensibilidade e a especificidade de um rastreamento para essas lesões. Métodos Foi realizado um estudo transversal de base populacional com escolha aleatória de 48 setores censitários da zona urbana de Pelotas, RS, Brasil. Um total de 2.112 domicílios foram visitados, sendo entrevistadas 1.292 pessoas de 50 anos de idade ou mais. O rastreamento possuía questões específicas sobre o surgimento de lesões de pele nos últimos seis meses e/ou a presença de lesões em áreas expostas. Os que responderam afirmativamente foram encaminhados ao exame médico. Também foi examinada uma subamostra daqueles que haviam respondido negativamente às questões do rastreamento. Resultados A prevalência corrigida das lesões cutâneas pré-malignas e malignas foi de 20,7%. A sensibilidade do rastreamento foi de 20,1%, a especificidade, de 86,9%, o valor preditivo positivo, de 29%, o valor preditivo negativo, de 80,4%, e acurácia, de 72,9%. Com diferentes pontos de corte, o valor máximo da sensibilidade atingiu 38,8%, e a especificidade não se alterou significativamente. Conclusões O estudo demonstrou alta prevalência de lesões cutâneas pré-malignas e malignas em adultos. O rastreamento para essas lesões mostrou baixa sensibilidade e especificidade inferior ao desejado, independentemente dos pontos de corte. Abstract ObjectiveThe incidence of melanoma is increasing worldwide, prevalence of malignant epithelial tumors is high and early diagnosis reduces significantly the morbi-mortality of these diseases. The purpose of the study is to estimate the prevalence of pre-malignant and malignant skin lesions and to determine the sensitivity and specificity of screening tests.

BackgroundAcne vulgaris is a pilosebaceous follicle disorder affecting over 85% of adolescents to some degree. It frequently causes psychological distress that may persist into adulthood due to scarring. Little information about post-acne scarring epidemiology is available.ObjectivesTo describe prevalence, distribution patterns and associated factors of acne scarring in young males, drawing on a representative population sample from a southern Brazilian city.MethodsA cross-sectional study was undertaken during presentation for military service, which is compulsory for all 18-year-old males. A questionnaire was applied, covering topics like diet, smoking habits, ethnicity, family structure, socio-economic level, as well as specific questions about active acne and resulting scars. Dermatologists conducted the clinical examination.ResultsA total of 2,201 male adolescents were interviewed and examined. The overall prevalence of acne scarring was 22%. The malar region was the most frequently involved, present in 80% of affected individuals, followed by the frontal region (31.5%), back (17%), anterior chest (8.2%) and mentonian region (6.4%). Correlation between the intensity of clinical acne and the presence of scars was found, but no association was observed with educational level, smoking, ethnicity, obesity or socio-economic status.ConclusionsThere is a high prevalence of acne scars among this population. This is the first study to ascertain a correlation between acne scarring and factors such as socio-economic status and educational level. The direct relation between acne severity and scarring indicates that prompt and effective treatment is the best way to reduce scarring.

Neuropathological hallmarks of Alzheimer's disease (AD) include amyloid plaque formation, neurofibrillary tangles, neuronal and synaptic loss. This study aims to identify the neuroprotective effects of the selenium compounds on the neurotoxicity of amyloid β(1-42) in primary cultures of murine hippocampal neurons. Samples were subjected to immunocytochemistry and western blotting techniques to determine the role of treatments on neuronal viability and synaptic protein SNAP-25. We observed a reduced cell viability amyloid β-peptide (1-42)-induced. When cells were co-treated with amyloid β-peptide (1-42) and selenium compounds, we verified a strong increase in relative cell viability and in the level of synaptic marker synaptosomal-associated protein SNAP-25 induced by selenium compounds.

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