Resumo

MURINELLO, António et al. Schwannomatose em mulher de 83 anos de idade. Rev. Port. Ortop. Traum. [online]. 2012, vol.20, n.4, pp.499-505. ISSN 1646-2122.

Schwannomatosis is an uncommon recently described genetic form of neurofibromatosis, in which patients harbor two or more pathologically sampled non-vestibular schwannomas. Differential diagnosis includes neurofibromatosis type 2 (NF2), with which it shares some clinical aspects, making it mandatory to rule out bilateral vestibular schwannomas by performing a high-resolution MRI of the head (in patients over 18 years old). This is all the more important because follow-up and genetic counseling are vastly different in schwannomatosis and NF2. The authors present a case of NF2-unrelated multiple schwannomatosis in an 83-year-old woman with tumors in her left forearm, in her abdominal wall and a larger one in her right foot. This report aims to disclose this rare event and shed light on an obscure disease.

Palavras-chave : Schwannomatosis; familial schwannomatosis; multiple schwannomas; pedal schwannoma.

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