Somatomedin C as tentative pathogenic factor in neurofibromatosis.
The distribution of somatomedin C (Sm-C; insulin-like growth factor I; IGF-I) immunoreactivity was examined in biopsies from three patients having the diagnosis neurofibromatosis established on clinical and histopathological criteria. All biopsies showed increased Sm-C immunoreactivity limited to areas with neurofibromas. Schwann cells, adjacent spindle-shaped fibroblast-like cells and newly formed blood vessels were positive. In addition, Sm-C immunoreactivity could be demonstrated in cells in the buccal epithelium. There was faint or no Sm-C immunoreactivity in biopsies from normal tissue of the patients and in specimens from control subjects. We propose that an abnormally increased local production of Sm-C, most likely by Schwann cells, forms a link in the chain of pathogenic events resulting in the disease neurofibromatosis.
D000328:Adult; D001706:Biopsy; D002648:Child; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007334:Insulin-Like Growth Factor I / Q000378:metabolism*; D009456:Neurofibromatosis 1 / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D009418:S100 Proteins / Q000378:metabolism; D012583:Schwann Cells / Q000378:metabolism / Q000473:pathology; D012878:Skin Neoplasms / Q000209:etiology / Q000378:metabolism / Q000473:pathology; D013002:Somatomedins / Q000378:metabolism*
D009418:S100 Proteins; D013002:Somatomedins; D007334:Insulin-Like Growth Factor I