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Three siblings with juvenile hyaline fibromatosis

H Uslu1, N Bal, E Guzeldemir

  • 1Department of Periodontology, Faculty of Dentistry, Baskent University, Ankara, Turkey. usluhilala.dana@yahoo.com

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
|January 24, 2007
PubMed

Insights

Juvenile hyaline fibromatosis (JHF) is a rare genetic disorder causing tumors and lesions. This case highlights management of gingival hyperplasia in a 9-year-old girl with JHF.

Area of Science:

  • Genetics
  • Dermatology
  • Pediatrics

Background:

  • Juvenile hyaline fibromatosis (JHF) is an extremely rare autosomal recessive genetic disorder.
  • Characterized by cutaneous tumors, papulonodular lesions, joint contractures, gingival hyperplasia, and osteolytic bone lesions.
  • Typically diagnosed in infants and children under 5 years old.

Observation:

  • A case report of a 9-year-old girl diagnosed with JHF.
  • The patient presented with severe gingival hyperplasia, nasal enlargement, mild osteoporosis, and multiple papulonodular skin lesions.
  • Her two brothers (aged 7 and 13) also had a JHF diagnosis.

Findings:

  • Gingivectomy followed by meticulous oral hygiene led to sustained resolution of gingival hyperplasia.
  • Recurrence of skin lesions and persistent nasal overgrowth were observed.
  • The characteristic lesions consist of fibrous tissue and amorphous hyaline material.

Implications:

  • Effective management of gingival hyperplasia in JHF is achievable with appropriate interventions.
  • Highlights the chronic and recurrent nature of skin lesions and skeletal abnormalities in JHF.
  • Emphasizes the importance of long-term monitoring and multidisciplinary care for patients with JHF.

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