- See:
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Congenital Pseudarthrosis:
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Sarcoma Menu
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Neurofibromatosis Foundation
- Discussion:
- neurofibroma is a benign tumor of neural origin;
- has an autosomal dominant trait w/ variable penetrance & high rate of spontaneous mutation;
- it is the most common single gene disorder (1 in 3000);
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presentation:
- neurofibromas are most commonly found in skin and subQ tissue or associated w/ nerve fibers;
- tumors may be solitary or multiple (multiple neurofibromas are most common);
- may affect patients of any age;
- most neurofibromas present as an active
stage 2 tumors, but aggresive
stage 3 infiltratrive forms may be seen occasionally;
- long standing neurofibromatosis may undergo malignant transformation to
neurosarcoma, which is often heralded by
a new onset neurologic deficit;
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diff dx:
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fibrous dysplasia:
- proteus syndrome:
- a disorder characterized by congenital hamartomas;
- hemihypertrophy, partial gigantism of
hands or feet, skin nevi, subcutaneous tumors, and
skull hyperostosis;
- no cafe-au-lait spots and no neurofibromas are encountered;
- disorder may stem from abnormal growth hormone metabolism;
- ref: Musculoskeletal manifestations of Proteus syndrome: report of two cases with literature review. J. Pediatric Orthopaedics. Vol 12. 1992. p 667-674.
- Associated Anomalies:
- cervical spine kyphosis;
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scoliosis:
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congenital psuedarthrosis of clavicle;
- pseudoarthrosis of extremities:
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congenital psuedarthrosis of tibia: (
anterolateral bowing)
- pseudoarthrosis of radius:
- gigantism of the limb:
- erosive defects from contiguous tumors;
- multiple fibrous cortical defects;
- subperiosteal calcifying hematoma;
- MRI:
- demonstrates an oval, avascular tumor;
- neurofibroma is frequently seen as a fusiform mass in continuity w/ major nerve best demonstrated by MRI;
- Histology:
- loose, spindle cell stroma containing wavy eosinophilic fibrillar material;
-
verocay bodies may be seen;
- composed of amorphorous eosinophilic material that is surrounded by spindle shaped or oval cells;
- Treatment:
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scoliosis:
-
congenital psuedarthrosis of tibia: (
anterolateral bowing)
- excision of neurofibroma:
- some neurofibromas infiltrate a peripheral nerve, thereby precluding en bloc extra capsular marginal excision w/o damaging the nerve;
The orthopedic manifestation of neurofibromatosis. A clinical experience and review of the literature.
Pitfalls of spinal deformities associated with neurofibromatosis in children.
Scoliosis surgery in neurofibromatosis.
Cotrel-Dubousset instrumentation in neurofibromatosis spinal problems.
Cervical spine abnormalities in neurofibromatosis.
Spine deformity in neurofibromatosis. A review of one hundred and 2 patients
Congenital pseudarthrosis of the leg. Late results.
Unusual orthopedic manifestations of neurofibromatosis.
Neurofibromatosis of the cervical spine. A report of eight cases.
Pathophysiology of spinal deformities in neurofibromatosis. An analysis of seventy-one patients who had curves associated with dystrophic changes.
Neurofibromatous scoliosis. Natural history and results of treatment in thirty-seven cases.
