同胞中的青少年透明纤维瘤病
Juvenile hyaline fibromatosis in siblings.
作者信息
Ravikumar Valkodai Ramanathan, Veerappan Ramamoorthi Ram Ganesh, Manisankar Sivakumar
机构信息
Department of Pediatrics, G. Kuppuswamy Naidu Memorial Hospital, Coimbatore, Tamil Nadu, India.
出版信息
Indian J Pathol Microbiol. 2019 Apr-Jun;62(2):300-302. doi: 10.4103/IJPM.IJPM_76_17.
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.
背景
青少年透明纤维瘤病是一种罕见的常染色体隐性结缔组织疾病。
病例特征
一名3岁女童，有多个面部结节、牙龈肥大和多处关节挛缩。她的同胞兄弟，一名男童也有类似表现且病情呈进行性发展，于2岁时死亡。
结果
结节活检显示真皮广泛透明化，PAS染色呈阳性。
启示
青少年透明纤维瘤病是出现多个结节性病变儿童的鉴别诊断之一。
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