Type 1 of Neurofibromatosis (Nf1) is also known as von Recklinghausen’s disease or peripheral neurofibromatosis. It is a genetic disorder that affects the nervous system, causing non-cancerous tumours to grow on nerves. This gene mutation can either be inherited or change suddenly, which cannot be predicted. Nf1 affects men, women and all ethnic groups equally.
Symptoms of Nf1 can usually be seen from childhood. Birthmarks can be one indicator, particularly if they are coffee-coloured and more than six have developed by the age of five. Freckles may also be a symptom if they appear in places such as armpits or the groin. Neurofibromas, the non-cancerous tumours, may appear with increased age, sometimes deeper in the body as well as showing on the skin. These can be soft or firm and will often increase in size and number. Although signs of Nf1 are often apparent from an early age, it is not always possible to diagnose the condition until enough symptoms have developed.
Complications can arise from Nf1, although for many people it does not develop beyond being a skin condition. The lumps can, for instance, be in a place on the body where they catch on things, thus causing discomfort. Sight and hearing problems may arise if neurofibromas press on nerves to the eyes and ears, which has been associated with learning difficulties similar to dyslexia or dyspraxia for Nf1 sufferers. Further complications have been known to include high blood pressure, bone problems and increased risk of epilepsy. In extreme cases, the size of the lumps may be disfiguring.
Painkillers may be used to manage discomfort caused by Nf1 and surgery is an option to remove neurofibromas. However, they may grow back at a later date.
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