Juvenile hyaline fibromatosis in siblings
oleh: Valkodai Ramanathan Ravikumar, Ram Ganesh Veerappan Ramamoorthi, Sivakumar Manisankar
| Format: | Article |
|---|---|
| Diterbitkan: | Wolters Kluwer Medknow Publications 2019-01-01 |
Deskripsi
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.