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von Recklinghausen' s Disease of Multiple Neurofibromatosis

Medical Questions » von Recklinghausen' s Disease of Multiple Neurofibromatosis
Name: von Recklinghausen' s Disease of Multiple Neurofibromatosis
Also known as:
Disfiguring condition of skin and nerves that affects one in every 3000 Europeans. Fatty lumps grow from cells that form the soft sheath around nerves.
Causes of von Recklinghausen' s Disease of Multiple Neurofibromatosis
Familial (passes from one generation to next in families). Both partners must carry the gene for a child to be affected.
Symptoms of von Recklinghausen' s Disease of Multiple Neurofibromatosis
Multiple light brown marks on the skin and soft fatty lumps under the skin, most commonly found on the trunk, pelvis and in the armpits. Spots and lumps increase in size and number with age, and in some patients, nerves may be damaged. One third of patients merely have a couple of brown spots that never concern them, while 10% are severely disfigured and disabled by large soft lumps under the skin, nerve weakness and multiple brown patches.
Tests for von Recklinghausen' s Disease of Multiple Neurofibromatosis
Diagnosis confirmed by examining a biopsy of the patches or lumps.
Treatment for von Recklinghausen' s Disease of Multiple Neurofibromatosis
Plastic surgery for particularly bad lumps and patches.
Complications of von Recklinghausen' s Disease of Multiple Neurofibromatosis of its treatment
Nerve damage due to soft lumps developing in the spinal canal, and in other areas where they can put pressure on nerves to the point where the nerve is no longer able to function. Deafness, blindness and paralysis may be the long-term result in a small number of cases. Scoliosis (curvature of the spine), bone cysts, uneven growth of the limbs (one arm or leg larger than the other), arthritis and sometimes mild mental retardation may occur. There is an increased risk of cancer (sarcoma) developing in affected tissues.
Likely Outcome of von Recklinghausen' s Disease of Multiple Neurofibromatosis
No cure, but reasonable life expectancy.
       
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