Three siblings with juvenile hyaline fibromatosis

Abstract

Juvenile hyaline fibromatosis (JHF) is an extremely rare hereditary genetic disease of autosomal recessive transmission that is characterized by large cutaneous tumors commonly involving the scalp, papulonodular skin lesions, flexural joint contractures, gingival hyperplasia, and osteolytic bone lesions. JHF is usually diagnosed in young infants and in children younger than 5 years, and the lesions characteristic of this disorder consist of fibrous tissue and homogenous amorphous eosinophilic hyaline material. We report the case of a 9-year-old girl with severe gingival hyperplasia, nasal enlargement, mild osteoporosis, and multiple papulonodular skin lesions. Her two brothers (7 and 13 years of age, respectively) were also diagnosed as having JHF. In the patient described in this report, the maintenance of oral hygiene after gingivectomy enabled the continued resolution of gingival hyperplasia, although skin lesions recurred and nasal overgrowth persisted.