Juvenile hyaline fibromatosis in siblings

被引：2

作者：

Ravikumar, Valkodai Ramanathan ^{[1
]}

Ramamoorthi, Ram Ganesh Veerappan ^{[1
]}

Manisankar, Sivakumar ^{[1
]}

机构：

[1] G Kuppuswamy Naidu Mem Hosp, Dept Pediat, PB 6327,Nethaji Rd, Coimbatore 641037, Tamil Nadu, India

来源：

INDIAN JOURNAL OF PATHOLOGY AND MICROBIOLOGY | 2019年 / 62卷 / 02期

关键词：

Facial nodules; gingival hypertrophy; joint contracture; juvenile hyaline fibromatosis; juvenile systemic hyalinosis;

D O I：

10.4103/IJPM.IJPM_76_17

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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.

引用

页码：300 / 302

页数：3

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