Fibromatosis hyalinica multiplex (juvenile hyalin fibromatosis) light microscopic, electron microscopic, immunohistochemical, and biochemical findings

摘要: Fibromatosis hyalinica multiplex juvenilis (juvenile hyalin fibromatosis) is a very rare mesenchymal dysplasia, probably inherited as an autosomal-recessive trait. Two nonrelated cases are reported. Among the clinical features, most impressive lesions multiple slowly growing subcutaneous nodules, hypertrophic gingiva, flexural contractures with joint stiffness and radiolucent bone destructions. Light microscopic examination of nodules reveals tumor-like deposits amorphous hyaline ground substance delicate staining properties situated partly between cellular vascular areas. Ultrastructural characteristics cystic, dilated rough endoplasmatic reticulum cystic Golgi vesicles which contain fine fibrillar material that also found in substance. Immunohistochemical shows collagen type I III material, but not II IV. Quantitative biochemical investigation normal ratio types III.