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Diagnosis of neurofibromatosis type 1 after resection of intercostal nerve neurofibroma

Borja Aguinagalde, Jon Zabaleta, Marta Fuentes, Nerea Bazterargui, Carmen Lobo, José Miguel Izquierdo
  • Borja Aguinagalde
    Department of Thoracic Surgery, Donostia Hospital, Donostia-San Sebastian, Spain | aguinavali@hotmail.com
  • Jon Zabaleta
    Department of Thoracic Surgery, Donostia Hospital, Donostia-San Sebastian, Spain
  • Marta Fuentes
    Department of Thoracic Surgery, Donostia Hospital, Donostia-San Sebastian, Spain
  • Nerea Bazterargui
    Department of Thoracic Surgery, Donostia Hospital, Donostia-San Sebastian, Spain
  • Carmen Lobo
    Department of Pathology, Donostia Hospital, Donostia-San Sebastian, Spain
  • José Miguel Izquierdo
    Department of Thoracic Surgery, Donostia Hospital, Donostia-San Sebastian, Spain

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.

Keywords

neurofibromatosis, thoracic wall, pathology.

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Submitted: 2011-09-02 11:25:33
Published: 2012-05-24 16:27:01
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Copyright (c) 2012 Borja Aguinagalde, Jon Zabaleta, Marta Fuentes, Nerea Bazterargui, Carmen Lobo, José Miguel Izquierdo

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