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