Posted by e-Medical PPT Thursday, November 11, 2010
Neurofibromatosis is a 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. The disorder affects all neural crest cells (Schwann cells, melanocytes, endoneurial fibroblasts).Cellular elements from these cell types proliferate excessively throughout the body forming tumors and the melanocytes function abnormally resulting in disordered skin pigmentation.The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems.Neurofibromatosis is autosomal dominant,which means that it affects males and females equally and is dominant.

Neurofibromatosis type 1 - mutation of neurofibromin chromosome 17q11.2. The diagnosis of NF1 is made if any two of the following seven criteria are met:
    * Two or more neurofibromas on the skin or under the skin or one plexiform neurofibroma (a large cluster of tumors involving multiple nerves); Neurofibromas are the subcutaneous bumps that are characteristic of the disease and increase in number with age.
    * Freckling of the groin or the axilla (arm pit).
    * CafĂ© au lait spots (pigmented, most often a shade of brown, smooth edges(birthmarks). Six or more measuring 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals
    * Skeletal abnormalities, such as sphenoid dysplasia or thinning of the cortex of the long bones of the body (i.e. bones of the leg, potentially resulting in bowing of the legs)
    * Lisch nodules (hamartomas of iris), freckling in the iris.
    * Tumors on the optic nerve, also known as an optic glioma

Neurofibromatosis type 2 - mutation of NF2 (Merlin) in chromosome 22q12
    * bilateral tumors, acoustic neuromas on the vestibulocochlear nerve leading to hearing loss

Related Posts Plugin for WordPress, Blogger...

0 Responses to Neurofibromatosis

Post a Comment

Share This


Subscribe by E-mail & receive updates your inbox!
Enter your email address:

Follow Us on Facebook

Blog Archive