Juvenile hyaline fibromatosis in siblings

ABSTRACT

Background: Juvenile Hyaline Fibromatosis is a rare autosomal recessive connective tissue disorder. Case Characteristics Three year old girl with multiple facial nodules, gingival hypertrophy and multiple joint contractures. Her sibling, male child also had similar findings which was progressive and he died at 2 years. Outcome: Nodule biopsy showed extensively hyalinised dermis with PAS positivity. Message Juvenile Hyaline Fibromatosis is a differential diagnosis for children presenting with multiple nodular lesions.