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Juvenile hyaline fibromatosis. Case report with five years' follow-up
I Miyake1, H Tokumaru, H Sugino
1Department of Plastic Surgery, School of Medicine, Juntendo University, Saitama, Japan.
Insights
Juvenile hyaline fibromatosis (JHF) is a rare genetic disorder. This case study details a 9-year-old girl
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Juvenile hyaline fibromatosis (JHF) is an extremely rare hereditary connective tissue disorder.
- Fewer than 30 cases were reported worldwide by 1985, highlighting its rarity.
- Early diagnosis can be challenging, with potential for misdiagnosis, as seen in this case.
Abstract:
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.