What is it?

Neurofibromatosis is a genetic disorder that involves multiple systems in the body. It is inherited as an autosomal dominant trait, and occurs in 1 in 3000 livebirths.

What are the symptoms?

The patient can present in various ways. But diagnosis can be made if the patient has some of the following conditions.

1. Multiple café-au-lait spots, which are tan-colored and smooth edged are present in different parts of the body.
2. Freckles in the axilla and inguinal areas are often present in these patients.
3. Multiple neurofibromas are present, which are firm nodules under the skin.
4. Anterolateral bowing of the tibia usually leads to pseudarthrosis of the tibia.
5. Severe scoliosis in the thoracic spine usually needs surgical correction.
6. Overgrowth of soft tissue and bone overgrowth leading to thick overgrown skin ("elephant man disease") and localized gigantism and leg length discrepancy.

What does your doctor do about it?

The treatment is usually directed to the problem at hand. Surgery is often indicated for the orthopedic manifestations of the disease. If the neurofibroma is deep-seated, and compresses on an important nerve or spinal cord, surgical decompression may be necessary.