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
收藏
页码：300 / 302
页数：3
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