The diagnostic challenge of juvenile hyaline fibromatosis, a case report with literature reviews

INTRODUCTION: Juvenile hyaline fibromatosis (JHF) is a rare genetic condition characterized by impaired collagen production or metabolism. This study aims to present a rare case of JHF. CASE REPORT: An 11-year-old boy presented with bilateral keloid-like lesions on his ears and admitted intermittent reappearance of such lesions since he was seven. He was born to second-degree relative consanguineous parents. Physical examination revealed bilateral soft pink masses on the ears, multiple scars on the scalp, severe gingival hypertrophy, multiple small soft white papules on the anterior neck, broadly shaped enlargements on the ends of the fingers and toes, and multiple reticulated hard livedoid and hyperpigmented macules on the back and anterior lower extremities. A 5 mm biopsy was taken from the lesion on the ear and histopathological examination of the specimen revealed a normal epidermis but dermal and subcutaneous deposits of nodules composed of abundant amorphous eosinophilic hyaline material with sparse embedded fibroblast associated with areas of congestion and focal hemorrhage. The ear lesions were managed by surgical excision with intraregional steroid injections to prevent relapse. To improve eating ability and oral hygiene, a gingivectomy was planned. DISCUSSION: JHF presents with bone lesions, gingival hypertrophy, joint contractures, and skin lesions. The clinical features usually appear late in infancy and up to 5 years. The condition occurs mostly sporadically. A portion of the cases can be in siblings born to consanguineous parents. CONCLUSION: JHF is a rare genetic disorder that can present even beyond five years. There is no standard treatment for these cases.