Pretibial dystrophic epidermolysis bullosa.

Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main constituent of anchoring fibrils. In this group, there are autosomal dominant and recessive inheritances. The pre-tibial form is characterized by the presence of blisters, milia, atrophic scars and lesions similar to lichen planus. The diagnosis is clinical and laboratory and subtypes are distinguished by means of immunohistochemical and ultrastructural studies, in addition to genetic differentiation. Electron microscopy and immunomapping are used in the diagnosis.

Pretibial dystrophic epidermolysis bullosa

Abstract Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main constituent of anchoring fibrils. In this group, there are autosomal dominant and recessive inheritances. The pre-tibial form is characterized by the presence of blisters, milia, atrophic scars and lesions similar to lichen planus. The diagnosis is clinical and laboratory and subtypes are distinguished by means of immunohistochemical and ultrastructural studies, in addition to genetic differentiation. Electron microscopy and immunomapping are used in the diagnosis.

Impacto da nutrição enteral na toxicidade aguda e na continuidade do tratamento dos pacientes com tumores de cabeça e pescoço submetidos a radioterapia com intensidade modulada / Impact of enteral nutrition on acute toxicity and treatment continuity in head and neck cancer patients submitted to intensity-modulated radiotherapy

OBJETIVO: Analisar o impacto da terapia nutricional enteral na manutenção do peso corpóreo e na necessidade de replanejamento e/ou interrupção da radioterapia em pacientes com câncer de cabeça e pescoço submetidos a radioterapia de intensidade modulada (IMRT). MATERIAIS E MÉTODOS: Foram analisados, retrospectivamente, os pacientes submetidos a IMRT entre janeiro de 2005 e outubro de 2008, com a inclusão de 83 casos. RESULTADOS: A idade mediana foi de 58,6 anos. Em apenas em cinco pacientes (6 por cento) houve interrupção do tratamento, que variou de 4 a 18 dias, e em 19 casos (23 por cento) houve necessidade de replanejamento. A terapia nutricional enteral foi instituída antes do início da radioterapia em 16 pacientes (19 por cento). Perda de peso > 5 por cento ocorreu em 58 casos (70 por cento), sendo mais prevalente no grupo de pacientes em que a terapia nutricional enteral não foi instituída pré-radioterapia. Na comparação entre os grupos não houve diferença significativa na realização de replanejamento (25 por cento versus 21 por cento; p = 0,741) ou na ocorrência e duração da interrupção da radioterapia. CONCLUSÃO: A terapia nutricional enteral tem um claro ganho na manutenção do peso corporal, porém, não houve um benefício na realização da gastrostomia percutânea endoscópica ou da sonda nasoenteral em relação à interrupção e ao replanejamento da radioterapia.

OBJECTIVE: The present study was aimed at analyzing the impact of enteral nutrition on the maintenance of body weight and on the necessity of replanning and/or interruption of treatment of head and neck cancer patients undergoing intensity-modulated radiotherapy (IMRT). MATERIALS AND METHODS: Cases of patients submitted to IMRT in the period from January 2005 to October 2008 were retrospectively reviewed, and 83 of them were included in the study. RESULTS: Median patients' age was 58.6 years. Only five patients (6 percent) had their treatment interrupted for a period ranging from 4 to 18 days, and in 19 cases (23 percent) required replanning. Enteral nutrition was initiated before the radiotherapy in 16 patients (19 percent). Weight loss of > 5 percent was observed in 58 patients (70 percent), with a higher prevalence in the group of patients who had not received pre-radiotherapy enteral nutrition. No significant difference was observed between the groups regarding the necessity of radiotherapy replanning (25 percent versus 21 percent; p = 0.741) and necessity and duration of treatment interruption. CONCLUSION: Enteral nutrition is of a great value in the body weight maintenance, but no benefit was observed with the performance of endoscopic percutaneous gastrostomy as compared with radiotherapy interruption/replanning.