Resumo A Capillary malformation-arteriovenous malformation syndrome (CM-AVM) é uma doença autossómica dominante rara causada por mutações heterozigóticas nos genes RASA1 e EPHB4. Há malformações capilares (MCs) multifocais associadas a um risco aumentado de malformações vasculares de alto fluxo que podem causar complicações ameaçadoras de vida. Uma menina de 6 anos apresentou-se com telangiectasias labiais e múltiplas (>10) máculas e manchas irregulares eritematosas-acastanhadas na face, pescoço, tronco e extremidades superiores, com início aos 18 meses de idade. Não havia queixas locais ou sistémicas associadas. O pai, irmão mais novo, a tia e avô paternos tinham lesões cutâneas semelhantes. O teste genético revelou uma mutação heterozigótica no gene EPHB4, confirmando o diagnóstico CM-AVM tipo 2. A doente foi avaliada por cardiologia e neurologia que excluíram malformações arteriovenosas (MAVs) associadas, e a doente mantem seguimento dermatológico e neurológico regulares, sem complicações até ao momento. O pai e o irmão foram também avaliados, tendo sido confirmada a mutação do gene EPHB4 e excluídas MAVs. O presente caso é uma apresentação clássica de CM-AVM tipo 2, com aparecimento gradual de MCs multifocais, telangiectasias labiais e história familiar positiva, sem MAVs extracutâneas associadas. Com este caso pretendemos chamar a atenção que um número crescente de MCs cutâneas atípicas pode ser o único sinal de CM-AVM, que deve alertar o médico para a exclusão de MAVs potencialmente fatais.

Abstract Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a rare autosomal dominant disorder caused by heterozygous mutations in RASA1 and EPHB4 that associates multifocal capillary malformations (CMs) with an increased risk for fast-flow vascular malformations (FFVMs) which can cause life-threatening complications. We report the case of a 6-year-old girl with lip telangiectasia as well as multiple (>10) erythematous to brownish irregular macules and patches on the face, neck, trunk, and superior extremities from the age of 18 months with no local or systemic complaints. Several family members had similar lesions. Genetic testing revealed a heterozygous mutation in the EPHB4 gene, confirming the diagnosis of CM-AVM type 2. EPHB4 gene mutation was also present in her father and brother. No associated arteriovenous malformations (AVMs) were found after a thorough evaluation by cardiology and neurology, neither in the patient nor in the closest relatives. The present case is a characteristic presentation of CM-AVM type 2 syndrome, with gradually appearance of multifocal CMs, lip telangiectasias, and a positive family history, without associated extracutaneous FFVMs. An increasing number of atypical CMs on the skin may be the only sign of CM-AVM and should alert the clinician to further investigate the presence of AVMs which can be life-threatening.

Abstract Background Mohs Micrographic Surgery (MMS) is commonly used to treat high-risk basal cell carcinoma (BCC). Objectives Correlate clinicopathologic preoperative features with the number of MMS stages (primary endpoint) and margins (secondary endpoint) required for BCC complete excision. Methods We retrospectively analyzed BCCs treated by MMS in a 2-year period at the study’s institution. Variables studied included the patient gender, age, immune status, lesion size, location, if it was a primary, recurrent, or persistent tumor, histopathologic characteristics, number of surgical stages, and amount of tissue excised. Results 116 BCCs were included. The majority (61.2%, n = 71) required a single-stage surgery for complete clearance, requiring a final margins of 3.11 ± 2.35 mm. Statistically significant differences between locations in different high-risk areas (periocular, perioral, nose, ear) and the number of MMS stages required for complete excision (p = 0.025) were found, with periocular tumours requiring the highest mean of stages (2.29 ± 0.95). An aggressive histopathology significantly influenced the number of MMS stages (p = 0.012). Any significant relation between clinicopathological features and variation in the final surgical margins was found, just certain tendencies (male patients, persistent tumor, periocular location, and high-risk histopathological tumors required larger margins). Neither patient age or tumor dimension correlated significantly with both number of MMS stages and final surgical margins. Study limitations Limitations of this study include its single-center nature with a small sample size, which limits the value of conclusions. Conclusion Main factors related to a greater number of MMS stages were periocular location and high-risk histopathological subtype of the tumor.

RESUMO O carcinoma basocelular é o cancro de pele mais comum, com uma incidência muito baixa de metástases, associada a alta morbilidade e mortalidade. A variante clínica morfeiforme é incomum, apresentando um padrão de crescimento agressivo. O diagnóstico precoce e as novas terapias-alvo para a doença metastática são importantes para melhorar as taxas de sobrevivência. Apresentamos o caso de um doente de 29 anos, com carcinoma basocelular morfeiforme na região geniana direita. Devido a recorrências locais, foi submetido a cirurgia e a radioterapia adjuvante. Por extenso envolvimento ósseo metastático, o doente iniciou vismodegib e, mais tarde, pembrolizumab, tendo realizado radioterapia paliativa antiálgica. Apesar das várias linhas de terapêutica sistémica, a doença progrediu, e o doente faleceu após 8 anos de seguimento. Este caso mostra como é crucial identificar fatores de risco para o basalioma metastático, e destaca a necessidade de melhorar as terapias-alvo e de adaptá-las ao perfil biológico do doente.

ABSTRACT Basal cell carcinoma is the most common skin cancer, with a very low incidence of metastases, associated with high morbidity and mortality. The morpheaform clinical variant is uncommon, presenting an aggressive growth pattern. Early diagnosis and new targeted therapies for metastatic disease are important to improve survival rates. We present the case of a 29-year-old patient with morpheaform basal cell carcinoma in the right genian region. Due to local recurrences, he underwent surgery and adjuvant radiotherapy. For extensive metastatic bone involvement, the patient started vismodegib and, later, pembrolizumab, and also performed palliative radiotherapy. Despite several lines of systemic therapy, the disease progressed, and the patient died after 8 years of follow-up. This case shows how crucial it is to identify risk factors for metastatic basal cell carcinoma and highlights the need to improve target therapies and tailor them to the patient’s biological profile.

RESUMO Introdução: As resinas epóxi, amplamente utilizadas em diversos setores industriais, estão entre as principais causas de dermatite de contacto alérgica. A industria de produção de turbinas eólicas é um dos setores que utiliza largamente estes produtos. Este estudo teve como objetivo avaliar a prevalência de alergia de contacto a resina epóxi e seus componentes entre trabalhadores da produção de pás de turbinas eólicas com suspeita de dermatite de contacto. Métodos: Realizámos uma análise retrospetiva dos resultados dos testes epicutâneos realizados entre 2012 e 2019 a trabalhadores da produção de pás de turbinas eólicas com dermatite e caracterizámos os seus dados demográficos e clínicos, os resultados dos testes epicutâneos e o impacto ocupacional da dermatite de contato alérgica nesses trabalhadores. Resultados: Dos 3049 doentes submetidos a testes epicutâneos no período de 2012-2019, identificámos treze trabalhadores da produção de pás de turbinas eólicas, predominantemente do sexo masculino (69,2%). Todos manipulavam colas, resinas e/ou tintas na sua atividade laboral diária. Sete (53,8%) apresentavam uma conjugação de dermatite das mãos e dermatite por exposição airborne, dois (15,4%) apresentavam dermatite exclusivamente das mãos e quatro (30,8%) dermatite predominantemente por exposição airborne. Todos os doentes tinham testes epicutâneos positivos para resina epóxi e dez (76,9%) também apresentaram positividade para 1,6-hexanediol diglicidiléter. Dois doentes (15,4%) também tiveram reação ao pó de resina já endurecida. Quatro doentes (30,8%) tiveram que abandonar o trabalho e três (23,1%) foram transferidos para outro posto de trabalho sem exposição a resina epóxi. A evicção da exposição resultou numa melhoria significativa. Conclusão: Com este estudo, confirmamos que a resina epóxi e seus componentes são a principal causa de dermatite entre os trabalhadores da produção de pás de turbinas eólicas e que o eczema ocorre por contato direto e por exposição airborne.

ABSTRACT Introduction: Epoxy resins, widely used in several industrial sectors, are among the main causes of allergic contact dermatitis. The wind turbine production industry is one of the sectors that uses these products widely. This study aimed to assess the prevalence of contact allergy to epoxy resin and its components among wind turbine blades production workers with suspected contact dermatitis. Methods: We performed a retrospective analysis of the patch test results performed between 2012 and 2019 in wind turbine blades produc-tion workers with dermatitis and characterized their demographic and clinical data, patch test results and the occupational impact of allergic contact dermatitis on these workers. Results: Out of the 3049 patients patch tested in the period 2012-2019, we identified thirteen wind turbine blades production workers, pre-dominantly male (69.2%). All of them handled glues, resins and/or paints in their daily work activities. Seven (53.8%) had a combination of hand dermatitis and airborne dermatitis, two (15.4%) had exclusively hand dermatitis and four (30.8%) had predominantly airborne dermatitis. All patients had positive patch test for epoxy resin and ten patients (76.9%) had also reaction for 1,6-hexanediol diglycidylether. Two patients (15.4%) also had a reaction to the already hardened resin powder. Four (30.8%) patients had to quit their jobs due to allergic contact derma-titis and three (23.1%) were transferred to another workstation without exposure to epoxy resin. Avoidance of exposure resulted in a significant improvement. Conclusion: With this study, we confirmed that epoxy resin and its components are the main cause of dermatitis among wind turbine blades production workers, that eczema occurs by direct contact and by airborne exposure.

Abstract Generalized eruptive keratoacanthoma of Grzybowski is a rare variant of multiple keratoacanthomas counting with about 40 cases reported. It is a chronic and progressive disease for which none of the described therapeutic options has been entirely satisfactory. We report a case of an 83-year-old female who presented with a 3-month history of extremely pruritic, multiple, skin-coloured to erythematous to brownish, millimetric papules, with a keratotic centre. Histological examination of an incisional biopsy was consistent with the diagnosis of keratoacanthoma. The patient started acitretin 25 milligrams daily with a complete resolution of pruritus and regression of numerous lesions.

RESUMO O deflúvio telogénico crónico pode definir-se como uma queda de fios superior à fisiológica (acima de 150-200 fios/dia) por um período superior a seis meses, sem que exista uma causa evidente. Embora comum, é muitas vezes subdiagnosticado, e levanta várias questões de índole prática às quais a literatura tem dificuldade em responder, desde a sua etiopatogénese à terapêutica. Neste artigo da Educação Médica Contínua, pretendemos ajudar a responder a estas questões, revendo a definição, fisiopatologia, caraterísticas clínicas / tricoscópicas / histológicas e a terapêutica do deflúvio telogénico crónico.

ABSTRACT Chronic telogen effluvium can be defined as a hair loss greater than the physiological one (above 150-200 hairs / day) for a period of more than six months, without an evident cause. Although common, it is often underdiagnosed, and raises several questions of a practical nature that the literature still has some difficulties in answering, from its etiopathogenesis to therapy. In this article on Continuing Medical Education, we intend to help answer these questions, reviewing the definition, pathophysiology, clinical / tricoscopic / histological characteristics and the therapy of the chronic telogen effluvium.

Abstract White fibrous papulosis of the neck is a rare entity, with fewer than 50 cases described. It is a benign pathology whose main interest lies in its broad differential diagnosis, especially with pseudoxanthoma elasticum. The authors report the case of a 77-year-old woman with multiple yellow-white monomorphic papules on the posterior cervical region, with years of evolution. Cutaneous biopsy revealed a nodular area in the superficial and middle reticular dermis, with slight thickening of the collagen fibers and focally enlarged elastic fibers, aspects highlighted in the Verhoeff staining that additionally showed absence of elastic fibers in the papillary dermis.

Introdução: A polineuropatia simétrica distal (PNSD) é uma complicação frequente e catastrófica da diabetes mellitus, mas subdiagnosticada. Os autores colocam a hipótese de o internamento ser uma oportunidade de rastreio da PNSD e pretendem comparar dois métodos de diagnóstico. Material e Métodos:Estudo prospetivo e multicêntrico, que incluiu doentes diabéticos internados nos serviços de medicina interna de dois hospitais, entre maio e outubro de 2015. Foi aplicada a escala MNSI (Michigan Neuropathy Screening Instrument) e o teste SWME (Monofilamento de 10 g-Semmes-Weinstein exam) para despiste de PNSD. Uma pontuação > 2 no exame clínico da MNSI ou ≤ 7 respostas positivas em 10 no teste SWME, foram consideradas diagnósticas de DSPN. Resultados: Foram incluídos 88 pacientes com idade mediana de 77 (13) anos e 45% homens; a maioria com diabetes tipo 2 e 7% tinham diagnóstico prévio de PNSD. A prevalência de PNSD foi de 75% utilizando o MNSI; o teste SWME foi anormal em 38% destes pacientes. A taxa de concordância entre os testes foi de 44,3%. Dos pacientes, 92,4% com diagnóstico de PNSD no estudo não tinham diagnóstico prévio. Discussão: O número de subdiagnósticos de PNSD neste estudo é alarmante. A percentagem de casos subdiagnosticada pode representar um problema de registo ou de escassez de rastreio. Conclusão: Neste estudo concluímos que a PNSD é altamente prevalente entre os pacientes hospitalizados, mas profundamente subdiagnosticada. A escala MNSI poderá ser um instrumento adequado para o rastreio, enquanto o teste SWME não deve ser utilizada isoladamente para este propósito.

Introduction: Distal symmetric polyneuropathy (DSPN) is a frequent, catastrophic and underdiagnosed complication of diabetes mellitus. The authors have hypothesized that hospitalization could be an opportunity to screen DSPN and also pretend to compare two different diagnostic methods. Material and Methods: This was a prospective and multicentre study that enrolled diabetic patients admitted consecutively to internal medicine wards, between May and October 2015. Patients were evaluated using the MNSI (Michigan Neuropathy Screening Instrument) and the SWME (10 g- Semmes-Weinstein monofilament examination). A score > 2 in the clinical examination of MNSI or ≤ 7 positive answers in a total of 10 in SWME were considered diagnostic of DSPN. Results: Eighty-eight patients were included; average age was 77 (13) years and 45% were males; most were type 2 diabetic patients, 7% had a previous diagnosis of DSPN. DSPN prevalence was 75% using MNSI, SWME was abnormal in 38% of these patients. The agreement rate between MNSI and SWME was 44.3%. A percentage of 92.4% of the patients with a diagnosis of DSPN in the study did not have a previous diagnose. Discussion: The number of underdiagnosed cases in this study is alarming but had been previously detected in studies regarding outpatient; it might represent a problem of registry or an omission in the screening of neuropathy. Conclusion: We have concluded that DSPN is a high prevalent disease in hospitalized patients in Portugal, which remains underdiagnosed. MNSI can be a good instrument to screen neuropathy and SWME should not be used exclusively for this purpose.