Juvenile hyaline fibromatosis in siblings
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 an...
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| Main Authors: | , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2019-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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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| Item Description: | 0377-4929 10.4103/IJPM.IJPM_76_17 |