epidermólise bolhosa distrófica pruriginosa: relato de caso epidermolysis bullosa pruriginosa: case report

Clicks: 183
ID: 201543
2005
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Abstract
A epidermólise bolhosa distrófica pruriginosa é doença genética rara cujo padrão de herança ainda não está bem estabelecido na literatura. O defeito genético, que envolve a codificação do colágeno tipo VII, está localizado no braço curto do cromossomo 3, ocorrendo mutação no gene COL7A1. Apresenta-se o caso de um paciente do sexo masculino que referia prurido nas pernas há cerca de 15 anos, cujo diagnóstico foi firmado com base nos exames dermatológico e imuno-histopatológico. Devido à raridade dessa condição patológica, realiza-se breve revisão do tema.
Epidermolysis bullosa pruriginosa is a rare genetic disease that the pattern of inheritance still remains not established in the literature. The genetic defect, that disturbes the type VII collagen encoding, is located on the short arm of chromosome 3, with mutation in gene COL7A1. We report a male patient that was affected by itching on the legs for about 15 years, and the diagnostic was made based on clinicopathological features. Due to low frequency of this disease, we performed a brief review about this topic.
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Authors Márcio José Silva de Souza, Carla Andréa Avelar Pires, Karine Keila de Sousa Vieira, Mario Fernando R. de Miranda, Deborah Aben-Athar Unger
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Journal Theriogenology
Year 2005
DOI
10.1590/S0365-05962005001000018
URL
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962005001000018
Keywords
collagen

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