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Juvenile hyaline fibromatosis in siblings
Valkodai Ramanathan Ravikumar1, Ram Ganesh Veerappan Ramamoorthi1, Sivakumar Manisankar1
1Department of Pediatrics, G. Kuppuswamy Naidu Memorial Hospital, Coimbatore, Tamil Nadu, India.
Insights
Juvenile Hyaline Fibromatosis (JHF) is a rare genetic disorder causing facial nodules and joint issues. Early diagnosis is crucial as it can be progressive and fatal in childhood.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Juvenile Hyaline Fibromatosis (JHF) is an extremely rare autosomal recessive connective tissue disorder.
- Characterized by the development of multiple nodular lesions, gingival hypertrophy, and joint contractures.
Background:
Juvenile Hyaline Fibromatosis is a rare autosomal recessive connective tissue disorder.
Case Characteristics:
Three year old girl with multiple facial nodules, gingival hypertrophy and multiple joint contractures. Her sibling, male child also had similar findings which was progressive and he died at 2 years.
Outcome:
Nodule biopsy showed extensively hyalinised dermis with PAS positivity.
Message:
Juvenile Hyaline Fibromatosis is a differential diagnosis for children presenting with multiple nodular lesions.
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