Description An inherited diseas...
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. There are 3 different types of neurofibromatosis (NF) with NF-1 being the most common, the other types are referred to as NF-2 and Schwannomatosis (named for the type of cell that grows abnormally). About 3-15% of people with NF-1 will have a malignant tumor resulting in death. However, usually the tumors are not fatal.
Symptoms
Abnormal skin color (cafe 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
Common tests used for diagnosis and treatment
Workup:
A history and physical exam will be performed. Diagnosis is made by imaging studies of the brain, and biopsy of the skin or other affected tissue.
Tests:
CT Scan, Magnetic resonance imaging (MRI), Skin biopsy
Other Specific Tests: Nerve biopsy
Specialists:
Neurosurgery, Dermatology, Neurology, Pediatric Neurology, Pediatric Neurosurgery, Telemedicine Dermatology
Workup:
A history and physical exam will be performed. Diagnosis is made by imaging studies of the brain, and biopsy of the skin or other affected tissue.
Tests:
CT Scan, Magnetic resonance imaging (MRI), Skin biopsy
Other Specific Tests: Nerve biopsy
Specialists:
Neurosurgery, Dermatology, Neurology, Pediatric Neurology, Pediatric Neurosurgery, Telemedicine Dermatology
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.