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Neurofibromatosis: Treatment, symptoms, advice and help

About neurofibromatosis

The term “Neurofibromatosis” refers to two different genetic disorders with similar features, namely Neurofibromatosis-1 (NF1) and Neurofibromatosis-2 (NF2), characterized by tendency to develop multiple, benign (non-cancerous) tumours of the nerves of the body. NF1 is more common than NF2.

Neurofibromatosis: Incidence, age & sex

The disorder occurs equally in men and women. There seems to be no geographical or ethnic variation. People of all races and ethnic origin may develop this condition.

Signs and symptoms of neurofibromatosis: Diagnosis

The symptoms of NF may start developing from childhood but may not exhibit serious health concerns. There can be coffee-coloured birthmarks (café-au-lait spots) on the skin. These spots can increase in size, number and became darker with time. Some of them may present with presence of freckles at armpits, groin and under the breasts. As the child grows, small non-cancerous tumours (neurofibromas) can develop on superficial nerves in the skin which appear as lumps under the skin. These are varied in sizes with soft to firm in consistency. These can be accompanied with tiny brown pigmented spots known as Lisch nodules which are found in the iris (coloured part of the eye). There can be other symptoms like blindness, convulsions, hearing loss, bone deformities and pain.

Detailed history and physical examination may detect the condition. Tests like X-ray, CT (computed tomography) scan or MRI scan (magnetic resonance imaging) with genetic blood test may be done to confirm the diagnosis.

Causes and prevention of neurofibromatosis

Neurofibromatosis is a genetic disorder. A person may inherit the defective gene or may develop disorder due to mutation (change) in a gene without obvious cause.

The neurofibromatosis cannot be prevented; however a person with family history of disorder should undergo genetic testing and counselling when planning a family.

Neurofibromatosis: Complications

Patient may not have any associated medical problems, except for an abnormal skin appearance which may result in physical disfigurement. However, some patients may develop complications associated to the tumours involving nerves such as behavioural disorder, blindness (optic glioma), bone deformities, curvature of the spine, hearing loss and higher blood pressure. Few of them may develop cancerous tumours.

Neurofibromatosis: Treatment

There is no specific treatment to cure neurofibromatosis. The symptomatic treatment is given to relieve associated symptoms and improve the quality of life. Tumour which causes pain or functional loss may be removed surgically. Children with low IQ or behavioural disorder may need special therapies.

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