Juvenile hyaline fibromatosis

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Assessment and Characterization of Hyaloid Vessels in Mice
08:22

Assessment and Characterization of Hyaloid Vessels in Mice

Published on: May 15, 2019

Jayashree Krishnamurthy1, Bibhas Saha Dalal, Sunila

  • 1Department of Pathology, JSS Medical College, Mysore, India .

Indian Journal of Dermatology
|February 21, 2012
PubMed

Insights

Juvenile hyaline fibromatosis is a rare genetic disorder causing skin nodules and other issues. Early diagnosis and genetic counseling are crucial due to its progressive nature and lack of specific treatment.

Area of Science:

  • Genetics
  • Dermatology
  • Pathology

Background:

  • Juvenile hyaline fibromatosis (JHF) is a rare autosomal-recessive connective tissue disorder.
  • Characterized by papular/nodular skin lesions, gingival hyperplasia, joint contractures, and bone involvement.
  • Associated with aberrant glycosaminoglycan synthesis by fibroblasts.

Purpose of the Study:

  • To report a case of JHF in a pediatric patient.
  • To describe the clinical presentation and histopathological findings.
  • To highlight the importance of genetic counseling and future diagnostic possibilities.

Main Methods:

  • Case report of a 5-year-old female with a history of consanguineous marriage.
  • Clinical examination for skin nodules.
  • Fine needle aspiration cytology and histopathological examination of nodules.

Main Results:

  • The patient presented with multiple, recurrent, painless, variable-sized nodules.
  • Cytology and histology revealed benign spindle cells in a Periodic acid Schiff-positive myxoid background.
  • JHF follows a progressive course, with limited lifespan and no current specific treatment.

Conclusions:

  • JHF requires genetic counseling due to a 25% recurrence risk in offspring.
  • Recent gene mapping offers potential for developing antenatal diagnostic techniques.
  • Further research is needed for effective JHF management strategies.

Keywords:
Autosomal recessive diseaseJuvenile hyaline fibromatosisPeriodic acid Schifffibrillary matrixglycosaminoglycans

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