Signs of Neurofibromatosis

Description

An inherited disease where nerve tissue grows abnormally and can cause serious damage to surrounding nerves resulting in loss of function, pain and numbness. The cells involved are Schwann cells, melaocytes, mast cells, and fibroblasts. There are eight different types of neurofibromatosis (NF) with NF-1 being the most common. About 3-15% of NF-1 patients will have a malignant tumor resulting in death. Effected patients experience skin bumps, discolored skin lesions (Cafe au lait spots), nerve damage, and bony problems.

Symptoms

Abnormal skin color (Café au lait spots), bumps on skin (Lisch nodules), freckling in the armpits, bone pain, bone deformities, nerve pain, numbness, weakness, learning problems, and / or Petit mal seizures.

Tests

A history and physical exam will be performed. Diagnosis is made by performing imaging studies of the brain, and biopsy of the skin or other affected tissue.

Standard Workup

Skin biopsy
CT Scan
MRI

Treatment

There is no specific treatment for neurofibromatosis. Therapy is aimed at removing tumors that cause pain or loss of function. Fast growing tumors should be removed quickly as they may become cancerous (malignant). Experimental treatments are still being studied but there is no FDA approved medications.