The clinical presentation is consistent with Neurofibromatosis type 1 (NF1), a condition caused by a NF1 gene mutation on chromosome 17 that codes for neurofibromin.
NF1 is an autosomal dominant disorder and affects approximately 1 in 4000 individuals. 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.
Figure A shows a hand with multiple cutaneous neurofibromas. Figure B shows the gross pathology of a a plexiform neurofibroma, which the characteristc "bag of worms" appearance. Figure C shows spindle cell stroma containing wavy eosinophilic fibrillar material consistent with a peripheral nerve tumor .
Answer 1. COMP is associated with MED - Type I
Answer 2. Fibrillin is associated with Marfan's syndrome
Answer 4. COL2A1 is associated with SED tarda and SED congenita
Answer 5. RUNX2/CBFA1 is associated with Cleidocranial dysplasia
Weiss SW, Goldblum JR: Benign tumors of peripheral nerves, in Enzinger FM, Weiss SW (eds): Soft Tissue Tumors. St Louis, MO, Mosby, 2001, pp 1111-1207.
Schwartz HS (ed): Orthopaedic Knowledge Update: Musculoskeletal Tumors 2. Rosemont, IL, American Academy of Orthopaedic Surgeons, 2007, pp 273-275.