Neurofibromatosis type 1 (thoracic manifestations)

Thoracic manifestations of neurofibromatosis type 1 (NF1)or von Recklinghausen disease, are related to pulmonary and mediastinal features of this multisystem neurocutaneous disorder, which is the most common phakomatosis.

For other thoracic manifestations as focal thoracic scoliosis, enlarged neural foramina, posterior vertebral scalloping, and characteristic rib abnormalities, please refer to the article musculoskeletal manifestations of NF1.

And for a general discussion of the underlying condition, please refer to the article on NF1.

It is estimated that ~5% of NF1 patients develop mediastinal tumours 2.

NF1 is a complex multi-systemic disease with a wide range of expression and unpredictable behaviour, thoracic manifestations are usually related to neurofibromas involving mediastinum and chest wall, lateral thoracic meningocoeles and pulmonary arterial hypertension.

Lung parenchymal disease is described, but it must be differentiated from other common aetiologies that could be associated.   

Mediastinal masses   
  • neurofibroma 1
    • well-circumscribed round or elliptic masses in the paravertebral regions or along the nerves courses (such as the vagus, phrenic, recurrent laryngeal, or intercostal nerves)
    • plexiform neurofibromas usually present as extensive infiltrating masses surrounding mediastinal vessels
    • may erode, invade, or destroy adjacent bone
    • there is a variable contrast enhancement
    • may calcify
  • lateral thoracic meningocoeles: typically on the convex side of scoliosis, through widened neural foramina
  • paraganglioma: extra-adrenal pheochromocytoma
Lung parenchymal disease
Other

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Article Information

rID: 31690
Section: Syndromes
Tags: refs, cases
Synonyms or Alternate Spellings:
  • Pulmonary manifestations of NF1
  • Pulmonary manifestations of neurofibromatosis type 1
  • Mediastinal manifestations of neurofibromatosis type 1
  • Chest manifestations of neurofibromatosis type 1
  • Chest manifestations of NF1
  • Mediastinal manifestations of NF1
  • Thoracic manifestations of NF1

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Cases and Figures

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    Case 1: intercostal nerves neurofibromas
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    Case 2: neurofibromas dorsal nerve roots
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