Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Hyaline fibromatosis syndrome

Abstract

Juvenile hyaline fibromatosis or infantile systemic hyalinosis is a rare progressive, fatal autosomal recessive disorder characterized by widespread deposition of hyaline. Mutations in capillary morphogenesis gene 2 gene is responsible for both these conditions. They usually present with fleshy, papular lesions, joint contractures, gingival hyperplasia, and persistent diarrhea. We report a 1-year-old girl with typical facial lesions, joint contractures and mild gingival hyperplasia without history of diarrhea and recurrent infections. Skin biopsy revealed deposition of hyaline.