Neurofibromatosis

 Neurofibromatosis

 

Neurofibromatosis (commonly abbreviated NF) is genetically-inherited disorder in which the nerve tissue grows tumors that may be harmless or may cause serious damage by compressing nerves and other tissues.

Neurofibromatosis Type 1 (85%):  2 or more meets diagnositic criteria

·          Two or more neurofibromas on the skin or under the skin or one plexiform neurofibroma (a large cluster of tumors involving multiple nerves).

·          Freckling of the groin or the axilla.

·          Six or more measuring 5mm in greatest diameter in prepubertal individuals and over 15mm in greatest diameter in post pubertal individuals.

·          Skeletal abnormalities, such as sphenoid dysplasia or thinning of the cortex of the long bones of the body.

·          Lisch nodules (hamartomas of iris), freckling in the iris.

·          Optic glioma

·          First degree relative (parent, sibling, or offspring) with NF1 by above criteria

Neurofibromatosis Type 2 (10%)

·          Bilateral tumors, acoustic neuromas on the vestibulocochlear nerve (the eighth cranial nerve) leading to hearing loss

·          In fact, the hallmark of NF2 is hearing loss due to acoustic neuromas around the age of twenty

·          Tumors may cause:

1.       Headache

2.       Balance problems, and Vertigo

3.       Facial weakness/paralysis

4.       Patients with NF2 may also develop other brain tumors, as well as spinal tumors

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