Neurofibromatosis

Question 1

Genetic abnormality in neurofibromatosis type 1?

Answer 1

NF-1 gene (chr 17, neurofibromin)

Question 2

Orthopedic manifestations of neurofibromatosis?

Answer 2

The orthopedic complications of neurofibromatosis, which usually appear early, include spinal deformities such as scoliosis and kyphoscoliosis, congenital anterolateral bowing and pseudoarthrosis of the tibia, bowing of the forearm, overgrowth phenomenon of an extremity, and soft tissue tumors.

Question 3

Gross pathology of neurofibromatosis?

Answer 3

“Bag of worms” tumor

Question 4

Histology of neurobibromatosis?

Answer 4

spindle cell stroma containing wavy eosinophilic fibrillar material consistent with a peripheral nerve tumor