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Juvenile hyaline fibromatosis in siblings.
Indian Journal of Pathology & Microbiology 2019 April
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.
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.
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