Síndrome de Proteus: relato de casos / Proteus Syndrome: case reports

INTRODUÇÃO: A síndrome de Proteus é uma doença complexa e rara, classificada nos grupo das hamartoses. Foi primeiramente descrita em dois pacientes, em 1979, por Cohen e Hayden. Existe dificuldade no diagnóstico, sendo comum a confusão com síndromes de Klippel-Trenaunay-Weber, neurofibromatose ou Stuge-Weber. Apresentamos dois casos tratados no Serviço de Cirurgia Plástica e Reparadora da Universidade Federal do Paraná. MÉTODO: Paciente masculino (caso 1), que chegou ao serviço aos 6 anos de idade, tendo como principais apresentações lipomatoses e assimetrias. A segunda paciente (caso 2) deu entrada no serviço com 20 anos de idade e diagnóstico de síndrome de Klippel-Trenaunay-Weber, que posteriormente mostrou se tratar de síndrome de Proteus. CONCLUSÃO: A hipótese etiológica mais aceita para a doença é genética. Acredita-se que exista mosaicismo somático e que a doença seja letal no estado não mosaico. Morte prematura é bastante frequente. Entretanto, a sequela mais comum é a ocorrência de tumores incomuns. O cuidado dos pacientes portadores da síndrome é um desafio devido às suas consequências médicas e psicossociais.

INTRODUCTION: Proteus syndrome is a complex and rare disorder classified as a hamartomatous disease. It was first described in two patients in 1979, by Cohen and Hayden. Proteus syndrome is difficult to diagnose, and is often confused with Klippel-Trenaunay-Weber syndrome, neurofibromatosis, or Sturge-Weber syndrome. In this study we describe two patients who were treated at the Plastic and Reconstructive Surgery Service of the Federal University of Paraná. METHOD: A 6-year-old male patient (case 1) presented to the Service with lipomatosis and asymmetry, as the primary findings. A 20-year-old (case 2) was admitted to the Service with a diagnosis of Klippel-Trenaunay-Weber syndrome, which later was shown to be Proteus syndrome. CONCLUSION: The etiological hypothesis that is most accepted for this disease is genetic. It is believed that somatic mosaicism may occur during pathogenesis, which can be lethal in the mosaic state. Premature death is common. However, the most common sequelae are the occurrence of unusual tumors. The care of patients with this syndrome is a challenge due to medical and psychosocial consequences.

Granuloma anular: aspectos clínicos y evolutivos de 52 pacientes / Granuloma annulare: clinical and developmental aspects of 52 patients

Introducción: El granuloma anular (GA) es una dermatosis benigna autolimitada. Se observa con mayor frecuencia en la edad escolar y, si bien la causa es desconocida, se postula que puede ser una reacción inmune de hipersensibilidad tardía a diversos antígenos. El diagnóstico es clínico y se basa en la presencia de placas de centro hipercrómico o color piel normal y límites papulares arciformes. La asociación con diabetes mellitus en los pacientes en la franja etaria pediátrica aún es controvertida. El objetivo de este trabajo es evaluar las características clínicas y evolutivas del GA en la infancia. Materiales y métodos: Estudio retrospectivo y descriptivo de pacientes de hasta 15 años de edad que tuvieron diagnóstico de GA, entre los años 1990 y 2008 en el servicio de atención terciaria de la ciudad de Curitiba, Brasil. Resultados: Fueron evaluados 52 casos de GA. La edad media de inicio fue de 4,5 años (14 meses a 12 años). En el 88% de los casos, las lesiones fueron asintomáticas. La forma localizada ocurrió en 39 (75%) pacientes, la profunda en 9 (17%) y las formas generalizada y perforante en 2 casos respectivamente. De los 33 pacientes con seguimiento, el 78,7% presentó mejoría de las lesiones en un período medio de 8 meses (1 a 35 meses). La glucemia en ayunas fue normal en los 18 (34%) casos evaluados. Un paciente tenía diagnóstico previo de diabetes mellitus tipo 1. Discusión: En esta población el GA afectó predominantemente al sexo femenino, con lesiones circinadas y localizadas en el dorso de los pies. La forma clínica más común fue la localizada, no hubo alteración de la glucemia y la resolución espontánea ocurrió en la mayoría de los casos.

Introduction: Granuloma annulare (GA) is a self-limited dermatosis. It is observed at school age the cause is unknown, it is believed to be an immune reaction of delayed hypersensitivity to various antigens. The diagnosis is clinical and based on the presence of arciform plaques with Introduction: Granuloma annulare (GA) is a self-limited dermatosis. It is observed at school age and hyperpigmented or flesh-coloured skin center. The association with diabetes mellitus in the pediatric population remains controversial. The objective of this work is to evaluate the clinical features and outcome of granuloma annulare in childhood. Materials and methods: Retrospective descriptive study of patients up to 15 years of age diagnosed with GA, between 1990 and 2008, in a tertiary care center of the city of Curitiba, Brasil. Results: We evaluated 52 cases of GA. The average age of onset was 4.5 years (14 months to 12 years). In 88% of cases the lesions were asymptomatic. The localized type was observed in 39 (75%) patients, deep lesions in 9 (17%) and generalized and perforating type in 2 cases each. Of the 33 patients with follow-up, 78.7% showed improvement in the lesions over an average period of 8 months (1 to 35 months). Glycemia was normal in the 18 cases evaluated. One patient had a previous diagnosis of type 1 diabetes mellitus. Discussion: We found, among the studied population, that GA occurred predominantly in females, with localized circinate lesions occurring mainly in the dorsal region of the feet. There was no increase in blood glucose and the spontaneous resolution occurred in most of the cases.