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NEUROFIBROMATOSIS

Neurofibromatosis is a genetic disorder of the nerve tissue presenting in two forms.  Type 1 (Nf1) affects one in every 2,500 people world-wide.  This equates to more than 23,000 people in the UK.  An affected person of either sex has a 1-in-2 chance of passing the defective gene on to any or all of their children.  However, everyone is at risk because 50% of cases result from spontaneous mutation in families with no previous history of neurofibromatosis.

Type 2 (Nf2) affects one in every 35,000 people world-wide (more than 1,500 in the UK) and, as with Nf1, an affected person has a 1-in-2 chance of passing on the defective gene to any of their children.

Symptoms

Type 1 (Nf1) – Six or more coffee colored (café-au-lait) marks on the skin in the first five years of life and/or nodules (lumps and bumps) on or just below the surface of the skin.

Complications include:

Type 2 (Nf2) – The chief characteristic of Nf2 are bi-lateral acoustic neuromas (tumors on both nerves of hearing).  Unless there is a family history of Nf2, diagnosis is often very difficult.  With no outward signs, in most instances substantial hearing loss has occurred before Nf2 is suspected.  Surgery is often the only treatment and facial paralysis is, in many cases, unavoidable.  Nf2 is always serious.

Complications include:

Treatments

In every case, prognosis of Nf1 is uncertain; no two cases are the same.  One of the particular problems is that the course of the disease cannot be predicted even within families; the disease complications do not breed true.  The morbidity and mortality of the disease is largely determined by which complications develop.  Recent studies, however, have drawn attention to the significant morbidity in terms of psychological well-being caused by the cutaneous neurofibromas themselves.  There is no actual preventative treatment for any of the disease features.  Treatment for many of the complications is the same as when they occur is isolation in the general population.  With regard to neurofibroma removal, there seems to be no particular benefit derived from either surgical or laser treatment.

(after reading  the above comment i have had an email from a visitor _ K who wishes to add her view below . - thanks  -K

Some neurofibromas can be painful and can interfere  with daily life--- especially if they are along the 
hairline or face (where shaving and such could cause  them to be cut) or along the waistline where clothes 
could be extremely uncomfortable. In addition is the most important factor: The 
psychological and emotional well-being of a patient. Both of these can be greatly improved by the removal 
of neurofibromas, especially if they are in a  conspicuous place such as the face, neck or hands. )

Nf2 is consistently a more severe problem than Nf1.  Nearly all affected individuals eventually develop bilateral acoustic than Nf1.  Nearly all affected individuals eventually develop bilateral acoustic neuromas which are very difficult to treat successfully.  There is no useful medical treatment for the tumors at the moment, all of which need to be removed surgically.  Patients need to be referred to centers with established expertise in acoustic neuroma surgery.

NEUROFIBROMATOSIS CLICK HERE