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.
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.
- 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
- increased lung volumes
- diffuse interstitial fibrosis: involving lower zone
- cysts and bullae formation: upper zone
- neurofibromatosis type 1 (NF1) (von Recklinghausen disease)
- neurofibromatosis type 2 (NF2) (mnemonic)
- tuberous sclerosis (Bourneville-Pringle disease)
- ataxia telangiectasia
- Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
- von Hippel-Lindau disease (retinocerebellar angiomatosis)
- incontinentia pigmenti (Bloch-Sulzberger syndrome)
- basal cell naevus syndrome (Gorlin-Goltz syndrome)
- Wyburn-Mason syndrome (Bonnet-Dechaume-Blanc syndrome)
- encephalocraniocutaneous lipomatosis
- hypomelanosis of Ito
- Nijmegen breakage syndrome
- epidermal naevus syndrome
- neurocutaneous melanosis
- progressive facial hemiatrophy (Parry-Romberg syndrome)
- PHACE syndrome
- Cowden disease/COLD syndrome
- Gomez-Lopez-Hernandez syndrome
- 1. Fortman BJ, Kuszyk BS, Urban BA et-al. Neurofibromatosis type 1: a diagnostic mimicker at CT. Radiographics. 21 (3): 601-12. Radiographics (full text) - Pubmed citation
- 2. Valeyrie-Allanore L, Ismaïli N, Bastuji-Garin S et-al. Symptoms associated with malignancy of peripheral nerve sheath tumours: a retrospective study of 69 patients with neurofibromatosis 1. Br. J. Dermatol. 2005;153 (1): 79-82. doi:10.1111/j.1365-2133.2005.06558.x - Pubmed citation