Oral Juvenile Hyaline Fibromatosis: A Rare Entity

Juvenile hyaline fibromatosis is an exceedingly rare disorder of infants and children which appears to have autosomal recessive inheritance. It is characterized by multiple, slowly growing dermal or subcutaneous tumors, especially in the head and neck region and upper trunk, often associated with gingival hypertrophy, severe flexural limb contractures and bone lesions. There is no mental retardation. Histologically, these lesions are composed of copious eosinophilic, homogenous ground substance with unevenly dispersed fibroblasts. Lesions excised in early stages are more cellular. The precise nature of the eosinophilic hyaline material is not known. Recently, a defect on chromosome 4q21 associated with the locus of the capillary morphogenesis gene-2, has been demonstrated. The differential diagnosis of juvenile hyaline fibromatosis includes infantile systemic hyalinosis, which is now known to be allelic. Currently, no widely accepted effective treatment exists for juvenile hyaline fibromatosis or infantile systemic hyalinosis. Infantile systemic hyalinosis and juvenile hyaline fibromatosis are sometimes difficult to separate since they show significant overlap. We report one such unusual case of juvenile hyaline fibromatosis in a 10 year old female presenting mainly with gingival hyperplasia.