Neurofibromatosis is a group of genetic conditions characterized by benign tumours. However, the tumour can become malignant. Diagnostic consists of genetic examinations and imaging (CT and MRI scans). Treatment methods involve targeted medications, surgical resection, and stereotactic radiosurgery.
Neurofibromatosis (NF) is a hereditary disease growing anywhere in the body and has multiple effects on organs. There are six kinds of neurofibromatosis, but the most common types are NF1 and NF2.
- Neurofibromatosis type 1 (NF1) is special - it is ordinarily diagnosed in childhood, up to 10 years old. This type is prone to skin lesions.
- Neurofibromatosis type 2 (NF2) is associated with the formation of neoplasms of nervous tissue (neuromas), which affects auditory-vestibular nerves. Mainly, neuromas are bilateral, which means they are located on both sides of the head.
Due to general statistics, one person per 3.000 population suffers from NF1. In contrast to this, 1 in 40.000 people has NF2. In addition, both humans with neurofibromatosis 1st and 2nd types might not have these mutations in family history. In short, 50% of people with NF, who receive this mutation, are the first of their kind.
The point is that signs of neurofibromatosis depend on its type. Common symptoms of NF1 include spots, freckles, bumps, bone deformations, neuromas, learning disability, short height, and severe neurological disorders. For example, neuromas growth might cause symptoms, from headache and tinnitus to balance and hearing loss.
Distinctive treatment for children with inoperable NF1 includes using antitumor medicines - Selumetinib - a kinase inhibitor. It reduces the amount and proliferation of neurofibromas. Surgical (or microsurgical) removal of tumours is the treatment of choice. Also, modern radiotherapy methods can be used (GammaKnife, CyberKnife).
The prognosis for NF1 is unpredictable. In most cases, it's relatively favourable. The development of mild or moderate symptoms allows patients to have an everyday life. However, with the progression of the process in some patients, life expectancy is often reduced to 15 years. In neurofibromatosis type II, the prognosis is unfavourable. This is because the possibility of damaging essential brain structures can be life-threatening.
Where can I get Neurofibromatosis treatment?
What are the best clinics for Neurofibromatosis treatment?
Who are the best doctors for Neurofibromatosis?
Prof. Dr. med. Roland Ladurner from Academic Hospital Martha-Maria Munich
Prof. Dr. med. Christian E. Elger from Beta Clinic Bonn
Prof. Dr. med Harald-Robert Bruch, MSc, PhD from Oncological and Haematological Praxis Clinic Bonn
Prof. Dr. med. Bernhard Meyer from University Hospital rechts der Isar Munich
Prof. Dr. med. Bernhard Hemmer from University Hospital rechts der Isar Munich