@ Skin Condition

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 coloured (cafe-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:


learning difficulties
behavioural problems
high blood pressure (hypertension)
curvature of the spine (scoliosis)
malformation of the long bones (below the knee and below the elbow - pseudarthrosis)
large benign skin tumours (plexiform neurofibroma)
tumours on the nerves of sight (optic glioma)
internal, spinal and brain tumours -usually benign
speech problems
increased risk of epilepsy
hearing defects
can lead to paralysis
can cause premature death
Type 2 (Nf2) - The chief characteristic of Nf2 are bi-lateral acoustic neuromas (tumours 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:

 


benign brain tumours (meningiomas)
tumours of the spine (meningiomas, schwannomas)
cataracts
skin tumours (schwannomas)
can lead to paralysis
can cause premature death
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 in isolation in the general population. With regard to neurofibroma removal, there seems to be no particular benefit derived from either surgical or laser treatment. Nf2 is consistently a more severe problem 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 tumours at the moment, all of which need to be removed surgically. Patients need to be referred to centres with established expertise in acoustic neuroma surgery.


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