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Diagnosis of neurofibromatosis type 1 after resection of intercostal nerve neurofibroma

DOI: 10.4081/cdr.2012.e10

Keywords: neurofibromatosis , thoracic wall , pathology.

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Abstract:

We report a case of a 37-year-old man with an asymptomatic extraparenchymal mass in the left hemithorax. Complete surgical removal of the tumour was achieved through a minithoracotomy and histological analysis confirmed the diagnosis of myxoid neurofibroma. Given this histological diagnosis, the patient was re-examined and many café au lait spots (more than 6, larger than 15 mm in diameter) and neurofibromas (elastic tissue) were observed and the patient was diagnosed with neurofibromatosis (NF) type 1 (von Recklinghausen’s disease). We have found only eight case reports of neurogenic tumours originating from an intercostal nerve; only two of these corresponded to neurofibromas. Among these two patients, only one was a case of NF type 1 and, in contrast to our case, the diagnosis was reached prior to surgery. We present a very rare case of intercostal nerve neurofibroma leading to a definitive diagnosis of NF type 1.

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