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08:22
Assessment and Characterization of Hyaloid Vessels in Mice
Published on: May 15, 2019
Juvenile hyaline fibromatosis
Jayashree Krishnamurthy1, Bibhas Saha Dalal, Sunila
1Department of Pathology, JSS Medical College, Mysore, India .
Indian Journal of Dermatology
|February 21, 2012
Summary
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.
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