Juvenile hyaline fibromatosis in siblings.

Juvenile hyaline fibromatosis in siblings.
Indian J Pathol Microbiol. 2019 Apr-Jun;62(2):300-302
Authors: Ravikumar VR, Veerappan Ramamoorthi RG, Manisankar S
Abstract
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.
PMID: 30971561 [PubMed - in process]

Source: Indian Journal of Pathology and Microbiology - March 31, 2019 Category: Pathology Authors: Ravikumar VR, Veerappan Ramamoorthi RG, Manisankar S Tags: Indian J Pathol Microbiol Source Type: research