JOURNAL OF NEUROSURGERY, cilt.103, sa.3, ss.285-288, 2005 (SCI-Expanded)
Juvenile hyaline fibromatosis (JHF) is a rare systemic disease characterized by papulonodular skin lesions, gingivalhyperplasia, joint contractures, and osteolytic lesions on long bones and the skull. It has recently been reported that the disease is caused by mutations in the gene encoding capillary morphogenesis protein-2 (CMG-2). To date, fewer than 60 cases have been published in the literature. Partial disease expression is common, but no cases featuring a solitary calvarial lesion have been reported.