Juvenile hyaline fibromatosis. Case report with five years' follow-up.

Juvenile hyaline fibromatosis (JHF) is a rare hereditary disorder named by Drescher et al. in 1969. As recently as 1985, only 30 cases had been reported worldwide. We report the case of a 9-year-old girl who was diagnosed with JHF at age 3 and has been closely followed since. She initially had slowly growing multiple soft tumors over her entire body as well as hypertrophic gingiva and mild bone deformities. She was originally misdiagnosed with infantile myofibromatosis at age 3. However, at age 6, because of the light and electron microscopic findings of the tumors, she was diagnosed as having JHF. Currently, at age 9, she has nodular lesions developing over her body as well as bone changes that are progressing with no evidence of regression.