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Neurofibromatosis (NF) is defined by tumors, called neurofibromas that grow along nerves in the body or on or under the skin. As the tumors increase in size, they can press on vital areas of the body, causing problems in the way the body functions.
Neurofibromas often first appear in childhood, especially during puberty. NF is occasionally diagnosed in infancy (in children with more apparent cases), but more often in kids between 3 and 16 years old.
The first noticeable sign is almost always the presence of brown café au lait spots. These distinctive spots don't hurt or itch and never progress to anything more serious than spots. They can be found anywhere on the body, though not usually on
the face. Tiny ones — freckles — may be seen under the arms or in the groin area.
Many neurofibromas can be removed. Although usually benign (noncancerous), an estimated 3%-5% become cancerous.
There's no specific cure for NF, but tumors usually can be removed and complications treated. Because learning disabilities occur in about half the children with NF, some might need extra help in the classroom.
Types of Neurofibromatosis
Neurofibromatosis is categorized as NF1 or NF2
NF1—This is rare genetic condition that causes brown spots and tumors on the skin, freckling in skin areas not exposed to the sun, tumors on the nerves, and developmental changes in the nervous system, muscles, bone, and skin.
NF-2-Also called acoustic neurofibromatosis, this is a genetic condition in which tumors form on the nerves of the inner ear and cause loss of hearing and balance. Tumors may also occur in the brain and on nerves in the skull and spinal cord, and may
cause loss of speech, eye movement, and the ability to swallow.
The Neurofibromatosis Clinic at Children's Hospital of Michigan is a comprehensive center that specializes in education, counseling, diagnosis and treatment for conditions associated with the disorder. Experts on the medical staff from various specialties
include; Neurology, Hematology/Oncology, Genetics, and Psychology who work together to coordinate care. Researchers in neurogenetics are also part of the team so that the center can offer the latest advances in promising new treatments.
The Neurofibromatosis Clinic offers state of the art neuroimaging techniques including:
Magnetic Resonance Imaging (MRI)
Low dose CT scans (Computed Tomography scans)
PET molecular imaging
MR Spectroscopy (MRS)
Diffusion Tensor Imaging
Magnetic Resonance Angiography (MRA) & Venography (MRV)
Diagnostic Cerebral Angiography
Other testing and procedures include:
Genetic mutation analysis
Biopsy from plexiform neurofibroma and other tumors to grow cells and evaluate which drugs may work
For further information on the Neurofibromatosis Clinic housed within the Department of Neurology or to schedule an appointment call (313) 745-KIDS or toll-free at (888) 362-2500.
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