| Literature DB >> 30971561 |
Valkodai Ramanathan Ravikumar1, Ram Ganesh Veerappan Ramamoorthi1, Sivakumar Manisankar1.
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.Entities:
Keywords: Facial nodules; gingival hypertrophy; joint contracture; juvenile hyaline fibromatosis; juvenile systemic hyalinosis
Mesh：
Year: 2019 PMID： 30971561 DOI： 10.4103/IJPM.IJPM_76_17
Source DB: PubMed Journal: Indian J Pathol Microbiol ISSN： 0377-4929 Impact factor: 0.740