Neurofibromatosis

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Orthopedics

Case description

Raghavendra Babu. Neurofibromatosis is a rare genetic condition that is commonly tested in medical exams.

- It is an autosomal dominant disorder that affects all three germ layers, leading to various symptoms such as skin lesions, cognitive problems, and skeletal abnormalities like scoliosis and pseudarthrosis.

- There are different types of neurofibromatosis, with NF1 being the most common (90%) and NF2 being responsible for 2-10% of cases.

- NF1 is caused by a tumor suppressor gene mutation that affects the neurofibromin protein, while NF2 is caused by a gene defect in chromosome 22 that affects Merlin protein synthesis.

- Other manifestations of neurofibromatosis include optic gliomas, axillary freckling, and cafe-au-lait spots. The risk of malignancy is up to 8%.

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This teaching video is specifically helpful for candidates preparing for the following Orthopaedic Exams : FRCS , European Board (FEBOT) , SICOT Diploma and Arabic Boards

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