Neurofibromatosis
Neurofibromatosis is the presence of swellings arising from the fibrous outer lining of nerves (and so called neurofibromas). There are two types, both of which are inherited in an autosomal dominant manner (which means that you only need to have one abnormal gene to have the condition, and that if you have it then statistically 50 per cent of your offspring will have it). Type 1, called von Recklinghausen’s disease, is associated with the presence of coffee-coloured spots (called Café-au-lait) on the skin which are usually present at a very young age. The neurofibromas themselves are benign and are felt as firm swellings under the skin, following the course of the nerves. They can cause pins and needles if they’re pressed, and complications can occur as a result of their positions if they cause pressure on the nerve. Superficial neurofibromas, called dermal neurofibromas, are jelly-like swellings which form on the skin and are unsightly. Surgical assistance may be required. Neurofibromas may undergo malignant change to produce cancers called neurofibrosarcomas. Neurofibromatosis type 2 is a much rarer condition which produces growth mainly on cranial nerves and in the central nervous system. As with type 1 there is no treatment other than that of the complications. In both cases genetic counselling may be of benefit.
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