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Neurofibromatosis Type 1, MedPix™ : 3768 - Medical Image Database and Atlas
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More Like This ? MSK - Musculoskeletal
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More Like This ? Leg (Tibia and Fibula)
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More Like This ? Congenital, genetic
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More Like This ? Neurofibromatosis Type 1
Topic 3768 - Created: 2002-05-01 12:46:35-04 - Modified: 2002-05-07 05:43:19-04
ACR Index: 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.

Contributor Credits

Topic Author(s): Danielle Moszyk
Submitted by: MS-4 USU Teaching File - Author Info
Affiliation: Uniformed Services University
Approved By: James G. Smirniotopoulos, M.D. - Editor Info
Affiliation: Uniformed Services University


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