Forensic Science, Medicine and Pathology

, Volume 14, Issue 3, pp 377–380 | Cite as

Neurofibromatosis 1 and massive hemothorax: a fatal combination

  • Stefano D’Errico
  • Massimo Martelloni
  • Francesco Pio Cafarelli
  • Giuseppe GuglielmiEmail author
Case Report


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.


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



No funding from any organization has been received.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Stefano D’Errico
    • 1
  • Massimo Martelloni
    • 1
  • Francesco Pio Cafarelli
    • 2
  • Giuseppe Guglielmi
    • 2
    • 3
    Email author
  1. 1.Department of Legal MedicineAzienda USL Toscana NordovestLuccaItaly
  2. 2.Department of Clinical and Experimental MedicineFoggia University School of MedicineFoggiaItaly
  3. 3.Department of RadiologyScientific Institute Hospital “Casa SollievodellaSofferenza”San Giovanni RotondoItaly

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