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MedPix® Medical Image DatabaseDisease Topic 3768
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Contributor: Danielle Moszyk
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More Like This ? Neurofibromatosis Type 1
Factoid 3768 - Created: 2002-05-01 12:46:35-04 - Modified: 2002-05-07 05:43:19-04
ACR Codes: 48.1831
Neurofibromatosis Type I is an autosomal dominant genetic disorder of chromosome 17. There are four types of neurofibromas: cutaneous, subcutaneous, nodular plexiform, and diffuse plexiform. This particular patient had evidence of diffuse plexiform neurofibromas on MRI. Other clinical manifestations are commonly associated with this disease. Two of the following six signs must be present for diagnosis: six or more café-au-lait macules, axillary or inguinal freckling, two or more iris lisch nodules, two or more neurofibromas, a distinctive osseous lesion, and optic gliomas.
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MSK - Musculoskeletal 		Sublocation:
Leg (Tibia and Fibula)		Category:
Congenital, genetic
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Written by: Danielle Moszyk
Prepared by: MS-4 USU Teaching File
Affiliation: Uniformed Services University - || - Author Profile
Approved by: James G. Smirniotopoulos, M.D.
Affiliation: Uniformed Services University - || - Editor Profile
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