Resumo É descrito o caso de um recém-nascido de termo, do sexo masculino, fruto de gestação vigiada sem intercorrências. Ao exame objetivo, o rapaz apresentou uma mácula hiperpigmentada, de coloração castanho claro, homogénea, com mais de 15 cm, compatível com nevo melanocítico congénito (NMC) gigante, tendo sido referenciado para a consulta de Neonatologia e Dermatologia. Desde então, tem apresentado crescimento e desenvolvimento psicomotor adequados e exame neurológico e ressonância magnética cranioencefálica sem alterações. O NMC é uma proliferação benigna de melanócitos, de coloração castanha, que forma tecas/ninhos na junção dermoepidérmica e/ou derme. Pode estar presente ao nascimento ou surgir nos primeiros dois anos de vida em qualquer localização. Os NMCs podem ser classificados em pequenos, médios, grandes, gigantes ou múltiplos. O NMC gigante é raro e representa um fator de risco para melanoma. A abordagem do NMC depende da idade e do tamanho do nevo, entre outros fatores. Dado o potencial de malignidade, o NMC gigante requer vigilância clínica com acompanhamento do neurodesenvolvimento e dermatoscopia regular e abordagem cirúrgica precoce perante lesões suspeitas.

Abstract The authors report the case of a male term newborn born after an uneventful monitored pregnancy. On physical examination, he presented with a light brown hyperpigmented homogeneous macule >15 cm in size compatible with a giant congenital melanocytic nevus (CMN). The boy was discharged with indication for Neonatology and Dermatology follow-up. Since then, he has shown adequate psychomotor growth and development and unremarkable neurologic examination and cranioencephalic magnetic resonance imaging. CMN is a benign proliferation of melanocytes forming theca/nests in the dermal-epidermal junction and/or dermis. It may be present at birth or develop during the first two years of life in any body area. CMN can be classified as small, medium, large, giant, or multiple. Giant CMN is rare and is a risk factor for melanoma. Management of CMN should be based on age, nevus size, and other factors. Because of the potential for malignancy, giant CMN requires clinical surveillance with neurodevelopmental monitoring and regular dermoscopy, as well as early surgical management of suspicious lesions.

BACKGROUND: aAlthough rare, bullous pemphigoid (BP) is the most common autoimmune blistering disease. Recent studies have shown that patients with bullous pemphigoid are more likely to have neurological and psychiatric diseases, particularly prior to the diagnosis of bullous pemphigoid. OBJECTIVE: The aims were: (i) to evaluate the demographic and clinical features of bullous pemphigoid from a database of patients at a Portuguese university hospital and (ii) to compare the prevalence of comorbid conditions before the diagnosis of bullous pemphigoid with a control group. METHODS: Seventy-seven patients with bullous pemphigoid were enrolled in the study. They were compared with 176 age- and gender-matched controls, which also had the same inpatient to outpatient ratio, but no history of bullous or cutaneous malignant disease. Univariate and multivariate analyses were used to calculate odds ratios for specific comorbid diseases. RESULTS: At least one neurologic diagnosis was present in 55.8% of BP patients compared with 20.5% controls (p<0.001). Comparing cases to controls, stroke was seen in 35.1 vs. 6.8%, OR 8.10 (3.80-17.25); dementia in 37.7 vs. 11.9%, OR 5.25 (2.71-10.16); and Parkinson's disease in 5.2 vs. 1.1%, OR 4.91 (0.88-27.44). Using multivariate analysis, all diseases except Parkinson's retained their association with BP. Patients under systemic treatment were eight times more likely to have complications than those treated with topical steroids (p< 0.017). CONCLUSIONS: The results of this study substantiate the association between BP and neurological diseases. In addition, they highlight the potential complications associated with the treatment of BP.

Pemphigoid gestationis is a rare, autoimmune blistering dermatosis of pregnancy. No increase in fetal or maternal mortality has been demonstrated, but a greater prevalence of premature and small-for-gestationalage babies has been reported. Topical and systemic corticosteroids and antihistamines are the manstay of treatment. The authors report a case of a 27-year-old woman at 28-weeks gestation with sudden onset of pruriginous vesicles and blisters in the abdomen and limbs. Systemic corticosteroids were introduced and maintained throughout gestation to prevent flares and tapered after the birth of a healthy child.

A escabiose ou sarna humana é uma infestação cutânea intensamente pruriginosa causada por Sarcoptes scabiei var hominis. A sarna crostosa (previamente conhecida como sarna norueguesa) é uma forma rara, muito contagiosa e transmitida pelo contacto direto com a pele. Apesar de eficazmente tratável, um atraso no diagnóstico leva muitas vezes ao contágio e infestação dos contactos, o que dificulta a contenção dos surtos. Apresentamos o caso de um doente onde os achados dermatoscópicos (sulcos escabióticos e estruturas em asa delta), confirmados pelo exame parasitológico direto, permitiram um rápido diagnóstico, reforçando o papel crescente que esta técnica assume na prática clínica.

Human scabies is an intensely pruritic skin infestation caused by Sarcoptes scabiei var. hominis. Crusted scabies (previously known as Norwegian scabies) is a rare form, very contagious and transmitted by direct contact with the skin. Despite being readily treatable, a delayed diagnosis often leads to widespread infestation of contacts, and therefore difficult to restrain. This case concerns a patient where dermoscopy (with scabetic burrows and a visible hand-glider structure), together with direct microscopic examination, allowed a prompt diagnosis, thereby reinforcing the increasing importance of this technique in daily practice.

Studies on linkage disequilibrium (LD) across the genome and populations have been used in recent years with the main objective of improving gene mapping of complex traits. Here, we characterize the patterns of genetic diversity of HLA loci and evaluate LD (D') extent in three genomic regions: Xq13.3, NRY and HLA. In addition, we examine the distribution of DXS1225-DXS8082 haplotype diversity in Azoreans and mainland Portuguese. Allele distribution has demonstrated that the São Miguel population is genetically very diverse; haplotype analysis revealed 100% discriminatory power for X- and Y-markers and 94.3% for HLA markers. Standardized multiallelic D' in these three genomic regions shows values lower than 0.33, thereby suggesting there is no extensive LD in the São Miguel population. Data regarding the distribution of DXS1225-DXS8082 haplotypes indicate that there are no significant differences among all the populations studied, (Azorean geographical groups, the Azores archipelago and mainland Portugal). Moreover, in these as well as in other European populations, the most frequent DXS1225-DXS8082 haplotype is 210-219. Even though São Miguel islanders and Azoreans do not constitute isolated populations and show LD for only very short physical distances, certain characteristics, such as the absence of genetic structure, the same environment and the possibility of constructing extensive pedigrees through church and civil records, offer an opportunity for dissecting the genetic background of complex diseases in these populations.

INTRODUÇÃO: Os familiares de pacientes no primeiro episódio psicótico ocupam um lugar importante no tratamento e na recuperação de seus parentes em atendimento. OBJETIVO: Avaliar o conhecimento sobre transtorno psicótico e as expectativas de tratamento dos familiares desses pacientes. MÉTODO: Antes de participarem de um grupo multifamiliar, os parentes dos pacientes no primeiro episódio psicótico responderam a um questionário a respeito de seus conhecimentos sobre a doença e de suas expectativas em relação ao tratamento. RESULTADOS: A amostra constituiu-se de 47 mulheres (82,5%) e 10 homens (17,5%), sendo a maioria mães dos pacientes. As respostas mostraram haver nenhum ou pouco conhecimento sobre o que é a crise psicótica, seus sintomas, tratamento e medicação. Em relação ao que gostariam de conversar no grupo de familiares, 16 (28%) indivíduos não responderam, 12 (21%) queriam saber como lidar com seu parente doente, seis (10,5%) queriam conversar sobre tudo, seis (10,5%) queriam entender o problema do parente, e 17 (30%) queriam conversar sobre a doença e aspectos relacionados. DISCUSSÃO: Os resultados mostraram que o conhecimento sobre a doença é escasso e que há interesse, principalmente, em saber como lidar com a situação. CONCLUSÕES: O acolhimento e as informações vão ao encontro das necessidades dos usuários e podem ajudar a melhorar a adesão ao tratamento, a qualidade das relações familiares e a evolução da doença.

INTRODUCTION: Family members are important in the care and recovery of first-episode psychotic patients. OBJECTIVE: To evaluate the knowledge of the disease and the treatment expectations of the relatives of patients at their first psychotic episode. METHOD: Before participating in a multi-family group, relatives of first-episode psychotic patients answered a questionnaire concerning their knowledge of the illness and their treatment expectations. RESULTS: The sample consisted of 47 women (82.5%) and 10 men (17.5%), mostly mothers. Answers showed no or little knowledge about the psychotic crisis, its symptoms, treatment and medication. Sixteen (28%) individuals did not provide an answer for the question about what they would like to discuss in the multi-family group, 12 (21%) wanted to know how to deal with and care for their ill relative, six (10.5%) would like to talk about everything, six (10.5%) wanted to understand the patient's problem, and the remaining 17 patients (30%) wanted to talk about the illness and related subjects. DISCUSSION: The results show that there is little knowledge about the disease, and that the relatives of first-episode psychotic patients are interested to know how to deal with the situation. CONCLUSION: Relatives of first-episode psychotic patients should be offered receptiveness and information. This can have a positive influence on the adherence to treatment, the quality of family relations, and the outcome.

INTRODUCCIÓN: Los familiares tienen un rol muy importante en el tratamiento y recuperación de los pacientes que están siendo atendidos en el primer episodio psicótico. OBJETIVO: Evaluar el conocimiento sobre el trastorno psicótico y las expectativas de tratamiento de los familiares de los pacientes en el primer episodio psicótico. MÉTODO: Antes de participar de un grupo multifamiliar, los parientes de los pacientes en el primer episodio psicótico contestaron a una encuesta sobre sus conocimientos acerca de la enfermedad y sus expectativas con relación al tratamiento. RESULTADOS: La muestra está formada por 47 mujeres (82,5%) y 10 hombres (17,5%), siendo la mayoría, madres de pacientes. Las respuestas indicaron haber poco o ningún conocimiento sobre lo que es un episodio psicótico, o sobre sus síntomas, tratamiento y medicación. Respecto a que les gustaría hablar en el grupo familiar, 16 (28%) individuos no contestaron, 12 (21%) quisieran saber cómo tratar a su pariente enfermo, seis (10,5%) quisieran conversar acerca de todo, seis (10,5%) quisieran entender el problema del pariente y el resto (17 o 30%) quisieran conversar acerca de la enfermedad y los aspectos relacionados. DISCUSIÓN: Los resultados indicaron que el conocimiento acerca de la enfermedad es insuficiente y que hay interés, principalmente, en saber cómo manejar la situación. CONCLUSIONES: La acogida y las informaciones atienden a las necesidades de los usuarios y pueden ayudar a mejorar la adhesión al tratamiento, la calidad de las relaciones familiares y evolución de la enfermedad.