Syndrome in Question

AbstractWaardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.

Syndrome In Question

The authors describe a case of Cowden´s syndrome in a female patient with classic cutaneous lesions, plus papillomatous lesions in the gastrointestinal tract and a previous history of thyroid carcinoma. Mucocutaneous lesions occur in 90% of Cowden's syndrome cases and are characterized by facial trichilemmomas, oral mucosal papillomas and benign acral keratoses. Sites of extracutaneous involvement include: the thyroid, gastrointestinal tract, breast and endometrial tissue. There is risk of malignancies in these organs and they need to be monitored with imaging tests. The early diagnosis of the syndrome by a dermatologist through mucocutaneous lesions enables the investigation and diagnosis of extracutaneous involvement. .

Livedoid vasculopathy associated with peripheral neuropathy: a report of two cases / Vasculopatia livedoide associada a neuropatia periferica: relato de dois casos

Livedoid vasculopathy (LV) is a chronic and recurrent disease consisting of livedo reticularis and symmetric ulcerations, primarily located on the lower extremities, which heal slowly and leave an atrophic white scar ("atrophie blanche"). Neurological involvment is rare and presumed to be secondary to the ischemia from vascular thrombosis of the vasa nervorum. Laboratory evaluation is needed to exclude secondary causes such as hyper-coagulable states, autoimmune disorders and neoplasms. We present two patients with a rare association of peripheral neuropathy and LV, thereby highlighting the importance of a multidisciplinary approach to reach the correct diagnosis. .

Vasculopatia livedoide é uma doença crônica e recorrente caracterizada por livedo reticular e úlceras simétricas nos membros inferiores, que cicatrizam e deixam uma cicatriz branca atrófica ("atrophie blanche"). Envolvimento neurológico é raro e está provavelmente associado a isquemia pela trombose dos vasa nervorum. Avaliação laboratorial é indicada com o intuito de excluir causas secundárias como estados de hipercoagulabilidade, doenças autoimunes e neoplasias. Apresentamos dois pacientes com uma rara associação de vasculopatia livedoide com neuropatia periférica, enfatizando a importância de uma abordagem multidisciplinar na busca do diagnóstico correto.

An atypical presentation of erythema elevatum diutinum

Erythema elevatum diutinum is a rare chronic leukocytoclastic vasculitis of unknown etiology. Lesions are usually asymptomatic, although burning and itchiness can occur. The typical clinical presentation is characterized by persistent, symmetrical,papules and nodules that may coalesce to form larger nodules or plaques. It may be associated with various pathologies and the diagnosis is based on clinical and histopathological findings. Treatment is based on the use of dapsone and sulfonamides, first-line therapies, and other options such as niacinamide, tetracycline,colchicine, chloroquine and corticosteroids. We describe the case of a 65-year-oldmale patient that presented a single lesion on the dorsum of the hand, an unusual clinical presentation.

Avaliação dos métodos diagnósticos para onicomicose / Evaluation of the diagnostic methods of onychomycosis

FUNDAMENTOS: As onicomicoses são infecções fúngicas responsáveis por 15 a 40 por cento das doenças ungueais. Apesar do pleno conhecimento de seus agentes etiológicos e do surgimento de inúmeros medicamentos antifúngicos, mantêm-se as dificuldades para se estabelecer diagnóstico correto. OBJETIVOS: Comparar o exame micológico direto, o histopatológico e a cultura dos pacientes com suspeita de onicomicose e verificar a sensibilidade e especificidade de cada método. MÉTODO: Foram selecionados 40 pacientes com suspeita clínica de onicomicose e avaliados os três métodos diagnósticos. Calculou-se para cada exame: sensibilidade, especificidade e valores preditivos, positivo e negativo. RESULTADOS: O exame micológico direto foi positivo em 29 pacientes (72,5 por cento), o histopatológico em 14 (35 por cento), a cultura em 22 (55 por cento). As especificidades foram: exame micológico direto 78,6 por cento, histopatológico 92,9 por cento e cultura 100 por cento. As especificidades não apresentaram diferença significativa (p > 0,05). Na análise dos valores preditivos positivo e negativo, a cultura e o exame micológico direto obtiveram maior eficácia, respectivamente. CONCLUSÕES: O exame micológico direto foi o mais confiável para seu resultado negativo. A cultura mostrou-se específica quando positiva. Quanto à biópsia, não se mostrou sensível e apresentou especificidade equivalente à dos outros exames.

BACKGROUND: Onychomycoses are frequent fungal infections, responsible for 15 percent to 40 percent of nail plate diseases. In spite of great existing knowledge on the etiological agents and of the emergence of numerous antifungal drugs, difficulties still remain in making a correct diagnosis. OBJECTIVE: To compare direct mycological examination, histopathology and culture of patients with suspicion of onychomycosis and to verify the sensitivity and specificity of the methods. METHODS: Forty patients with clinical suspicion of onychomycosis were chosen and evaluated with the three diagnostic methods. For each of the methods, sensitivity, specificity, predictive positive value and predictive negative value were calculate. RESULTS: Direct mycological examination was positive in 29 patients (72.5 percent), histopathology in 14 (35 percent), and culture in 22 (55 percent). Found specificities were: direct mycological examination: 78.6 percent, histopathology: 92.9 percent and culture: 100 percent. There were no significant differences in the specificity of the methods (p > 0,05). In the analysis of the predictive positive value and the predictive negative value, culture and direct mycological examination had the largest efficacies, respectively. CONCLUSION: Direct mycological examination was the most reliable exam when its result was negative. Culture showed specificity when positive. As to the biopsy, it was found not to be sensitive and presented equivalent specificity to the other evaluated exams.