Juvenile hyaline fibromatosis in siblings

Indian J Pathol Microbiol. 2019 Apr-Jun;62(2):300-302. doi: 10.4103/IJPM.IJPM_76_17.

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.

Keywords: Facial nodules; gingival hypertrophy; joint contracture; juvenile hyaline fibromatosis; juvenile systemic hyalinosis.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Diagnosis, Differential
  • Ear / pathology
  • Face / pathology
  • Fatal Outcome
  • Female
  • Humans
  • Hyaline Fibromatosis Syndrome / diagnosis*
  • Hyaline Fibromatosis Syndrome / pathology*
  • Male
  • Siblings*