Juvenile hyaline fibromatosis: two new patients and review of the literature

Am J Med Genet. 1987 Jan;26(1):123-31. doi: 10.1002/ajmg.1320260119.

Abstract

We report on a sister and a brother (born to normal consanguineous parents) with joint contractures and osteolytic lesions of bones. The sister had also gingival hyperplasia and skin lesions consisting of multiple tumors of the face, nose, palate, ears, and neck. Histologic examination showed findings of juvenile hyaline fibromatosis. The literature is reviewed, and 15 cases already reported are summarized.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Child, Preschool
  • Consanguinity
  • Contracture / genetics
  • Female
  • Fibroma / genetics*
  • Fibroma / pathology
  • Fibromatosis, Gingival / genetics*
  • Fibromatosis, Gingival / pathology
  • Genes, Recessive
  • Humans
  • Infant
  • Joint Diseases / genetics
  • Male
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology