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Skin as an endocrine organ: implications for its function.Drug Discovery Today Disease Mechanisms

PMID 16029330

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Epidemiology Demographics 30 to 55 years for solitary neurofibromas 20 to 40 years for neurofibromatosis type 1 (NF-1) Etiology Genetics most cases associated with NF-1 4% incidence in these patients Presentation Presentation soft-tissue mass most arise from large nerves (sciatic, brachial plexus) motor and sensory deficit of the affected nerve Imaging Radiograph usually normal or non-specific soft-tissue mass MRI low-intensity on T1-weighted images high intensity on T2-weighted images serial MRI may show enlargement of previous benign nerve sheath lesion suggesting malignant transformation Bone scan mildly positive Studies Histology classic characteristics are spindle cells with wavy nuclei resembling fibrosarcoma Immunohistochemistry positive S100 stain keratin staining is negative Treatment Operative wide surgical resection + radiation indications standard of care in most patients in general, treated as high-grade sarcoma technique wide resection should include entire affected nerve radiation perform preoperative neo-adjuvant radiation chemotherapy not useful Prognosis Survival for solitary lesion is 75% (5-year survival) Survival associated with NF-1 is 30% (5-year survival) Create a free account or log in to see the cards.