Neurofibromatosis 1 and massive hemothorax: a fatal combination

Stefano D’Errico, Massimo Martelloni, Francesco Pio Cafarelli, Giuseppe Guglielmi

Research output: Contribution to journalArticlepeer-review


Type 1 neurofibromatosis (NF 1), a rare genetic disease with autosomal dominant transmission, has typical dermatologic manifestations with pathognomonic Lisch nodules, and is rarely known for vascular alterations. Among these, aneurysmal dilatation is the most common form. We report a fatal case of massive hemothorax due to a spontaneous rupture of the left pulmonary artery branch micro-aneurysm in a NF 1 patient. Indeed, spontaneous rupture of these pathologic vessels is very rare in clinical practice and the literature, but, for its potentially life-threatening complications, there is the need for it to be taken into account in differential diagnosis. The origin of bleeding was first confirmed by computed tomography angiography (CTA). The patient’s condition worsened suddenly leading to pulmonary hemorrhage and death. A clinical autopsy was required to assess the definitive cause of death.

Original languageEnglish
Pages (from-to)377-380
Number of pages4
JournalForensic Science, Medicine, and Pathology
Issue number3
Publication statusPublished - Sept 1 2018


  • Autopsy
  • Micro-aneurysm
  • Neurofibromatosis type 1
  • Pulmonary artery
  • Spontaneous hemothorax
  • von Recklinghausen’s disease

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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