Juvenile hyaline fibromatosis: a case report

Pathologica. 2014 Jun;106(2):70-2.

Abstract

Juvenile hyaline fibromatosis is a rare, hereditary disease with distinct clinical and histopathological features. Clinically, it presents with gingival hypertrophy, pappulonodular skin lesions and joint contractures. Bone involvement is usually an uncommon finding. We report a case of a 2-year-old patient, daughter of consanguineous parents, who presented since the age of 2 months with impairment of mental development, multiple joint contractures, motion limitation and nodules on the scalp. The calvarian lesions were surgically removed, and histopathological examination concluded to juvenile hyaline fibromatosis.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers / metabolism
  • Biopsy
  • Brain / metabolism
  • Brain / pathology
  • Child, Preschool
  • Contracture / diagnosis
  • Contracture / etiology
  • Contracture / metabolism
  • Female
  • Gingival Hypertrophy / diagnosis
  • Gingival Hypertrophy / etiology
  • Gingival Hypertrophy / metabolism
  • Humans
  • Hyalin / metabolism*
  • Hyaline Fibromatosis Syndrome / complications
  • Hyaline Fibromatosis Syndrome / diagnosis*
  • Hyaline Fibromatosis Syndrome / metabolism
  • Hyaline Fibromatosis Syndrome / pathology
  • Hyaline Fibromatosis Syndrome / surgery
  • Magnetic Resonance Imaging
  • Predictive Value of Tests
  • Skin / metabolism
  • Skin / pathology

Substances

  • Biomarkers