Juvenile hyaline fibromatosis: a case report and review of the literature.

BACKGROUND

Juvenile hyaline fibromatosis (JHF) is a rare, inherited condition characterized by tumor-like growth of hyalinized fibrous tissue on the head and neck, joint contractures, and gingival hypertrophy. There may be marked clinical heterogeneity.

METHODS

We present a case of a 3-year-old Haitian boy with multiple firm nodules on the scalp and chin without joint contractures or gingival hypertrophy. Family history was not available.

RESULTS

Biopsy specimens from three scalp nodules were processed with routine and immunohistochemical stains. The matrix was periodic acid Schiff (PAS) and Alcian blue positive. The cellular stromal component was positive for vimentin and scattered factor XIIIa positive cells were found. Osteoclast-like giant cells were also noted, and stained for CD68.

CONCLUSIONS

Our patient had the nodular growths on the scalp and face that are characteristically found in JHF. Microscopic examination confirmed the diagnosis and showed scattered intracytoplasmic and extracellular eosinophilic globules in three separate biopsy specimens. These were positive with PAS.