Bullous pemphigoid and comorbidities: a case-control study in Portuguese patients

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. .

Case for diagnosis

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.

Case for diagnosis / Caso para diagnostico

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.

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.

Linkage disequilibrium and diversity for three genomic regions in Azoreans and mainland Portuguese

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 percent discriminatory power for X- and Y-markers and 94.3 percent 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.

Conhecimento sobre a doença e expectativas do tratamento em familiares de pacientes no primeiro episódio psicótico: um estudo transversal / Knowledge of the disease and treatment expectations in relatives of patients with the first psychotic episode: a cross-sectional study

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 por cento) e 10 homens (17,5 por cento), 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 por cento) indivíduos não responderam, 12 (21 por cento) queriam saber como lidar com seu parente doente, seis (10,5 por cento) queriam conversar sobre tudo, seis (10,5 por cento) queriam entender o problema do parente, e 17 (30 por cento) 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.