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About Authors:
Tapan Behl*, Monika Sharma, Dr. Heena Goel
Assistant Professor, Department of Pharmacology,  
Doaba Group of Colleges, Kharar, Mohali

Neurofibromatosis is genetic disease characterized by lesions mainly in brain region with a broad array of complications associated with it. The prime role of treatment is to obtain a relief from the symptoms associated this disease.


Neurofibromatosis is an autosomal dominant genetic disease that is characterized by prepondence of lesion formation primarily in brain, soft tissues or bone. The term ‘neurofibroma’ was coined by Von Recklinghausen in 1881 for tumour of peripheral nerve sheath.. The involvement of tumours may lead to fatal damage as nerves will be compressed. The cells affected by this disease include schwann cells, melanocytes and endoneurial fibroblasts.

Occurrence and Types of Neurofibromatosis: The occurrence of neurofibromatosis disorder is precipitated by the mutation in cells although it affects both male and female of all races and ethnic group equally. The classification of neurofibromatosis can be done in two different diseases namely type 1 neurofibromatosis (NF1) also called as von Recklinghausen and type 2 neurofibromatosis (NF2) also called as bilateral neurofibromatosis. Apart from these two types of NF, another rare form of NF known as Schwannomatosis is characterized by multiple benign tumours in Schwann cells. The hallmark feature of this disorder is manifestation of chronic pain in peripheral nerves which are mainly affected.

Epidemiology: The prevalence of NF1 is about 1 in every 2500 newborns and NF2 is about 1 in 50,000 birth. The one copy of affected gene in parents marks 50% chances for the consequent aggravation of NF in their children.

Causes of Neurofibromatosis: Genetic inheritance is the prime factor for progression of NF disease. The faulty NF1 or NF2 genes are the key contributors for this disease although the deletion of either of these genes does not precipitate the NF condition. NF1 is mainly caused by defective gene on chromosome number 17 whilst NF2 is caused by defective gene on chromosome 22. NF may also be caused by spontaneous mutation during egg or sperm development.

Signs and Symptoms: Following symptoms prevail in patients of NF:

  • Multiple skin lesions (known as café au lait spot) during infant age
  • Dizziness and laziness
  • Hearing abnormality leading to tinnitus
  • Learning deprivation
  • Presence of benign orange papules known as Juvenile xanthogranulomas on head and trunk regions
  • Bone deformities
  • Chronic pain
  • Tumour on eighth cranial nerve (vestibulocochlear nerve)
  • Multiple freckles in the armpit area

Complication associated with Neurofibromatosis: NF encompasses a wide array of complications mainly:

  • Gastrointestinal problems including pain, dyspepsia, constipation
  • Psychological problems including anxiety and depression. Patients with this disease lack various social, behavioral and emotional aspects
  • Obstetric complications including intrauterine restriction
  • Widespread chance of tumours of optic chiasma.

Treatment: There is no specific treatment for NF, the prime role being to relieve symptoms.

  • Surgical procedures may be performed to relieve painful cutaneous  and subcutaneous tumours
  • In case of failure of surgery, high energy X-rays (radiotherapy) may be used for tumour shrinkage
  • Tinnitus related morbidities can be treated with hearing therapist
  • Cataract removal
  • Proper counseling and support help the patients to cope with this disease


  • Ferner, Rosalie E., Susan M. Huson, and D. Gareth R. Evans. Neurofibromatoses in clinical practice. Springer, 2011.
  • North K, 1998. Clinical aspects of neurofibromatosis type 1 European Journal of Paediatric Neurology, 2: 223-231.
  • Yohay K. Neurofibromatosis types 1 and 2. Neurologist 12, 86-93 (2006).
  • Evans, DGR, Sainto M and Baser ME, 2000. Neurofibromatosis type 2. Journal of MedicalGenetics, 37: 897-904.
  • Xiao Gh, Chgernoff J, Testa JR. NF2: the wizardry of merlin. Genes Chromosomes Cancer 38, 389-99 (2003).



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