Neurofibromatosis Introduction & Types

Conditions & Diseases: Brain & Nervous System

Neurofibromatosis

Introduction & Types:

Neurofibromatoses (plural) are a group of three genetically distinct nervous related, non-contagious, progressive disorders affecting people of all races and ethnic groups, irrespective of sex, whereby tumors develop in cells that make up the myelin sheath. (A myelin sheath envelops and protects nerve fibers.)

“The most common tumors are neurofibromas, which develop in the tissue surrounding peripheral nerves.” Generally, these tumors are not malignant and may turn cancerous over a period of time (1) & (2).

The exact causes for occurrence of these tumors are unknown but mutations to the genes NF1 and NF2 are supposed to suppress production of specific proteins that control cell production leading to uncontrolled multiplication of cells and thus form tumors (1).

Types of Neurofibromatoses

Neurofibromatoses are categorized into the following three types:

Neurofibromatosis 1 (NF1):
Neurofibromatosis 1 is an autosomal dominant genetic disorder (i.e., 50% of the cases inherited from the parent). This type is characterized by multiple café-au-lait spots (six or more flat, pigmented spots called [by the French term for coffee (café) with milk (lait) due to their light tan color] and neurofibromas on or under the skin. Characterists of NF1 include enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Tumors may develop in the brain, on cranial nerves and/or on the spinal cord. This is a more common form of NF occurring in 1:3,000 births globally (3), (4) & (5).

Neurofibromatosis 1 is also called as Peripheral Neurofibromatosis, Recklinghausen Disease and von Recklinghausen Disease (7).

Neurofibromatosis 2 (NF2):
NF2 is also an autosomal dominant genetic disorder (inherited) and is characterized by multiple tumors on cranial and spinal nerves. Usually, tumors affect both the auditory nerves with loss of hearing as the first symptom. NF2 affects 1 in 25,000 people (3), (4) & (5).

Neurofibromatosis 2 is also called as Bilateral Acoustic Neurofibromatosis, Vestibular Schwannomas, Central Neurofibromatosis, Familial Acoustic Neuromas and Neurofibromatosis Type II (8).

Schwannomatosis:
Multiple benign tumors (i.e., Schwannomas) form in peripheral nerve fiber cells (called Schwann cells). Chronic pain is a hallmark in this type of NF but no neurological disabilities or malignant tumors occur. Pain may occur in any part of the body depending on peripheral nerves that are affected. Schwannomatosis is a rare form of NF affecting 1 in 40,000 people (3), (4) & (5).

Article by Kona Vishnu, MS
Medical Writer,
OmniMedicalSearch.com

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Page Last Modified:
12/02/2010