少年透明纤维瘤病综合征：ANTXR2基因的新变异导致严重表型。

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2025-09-04 DOI:10.1111/pde.70027

Ilayda Akyon, Ozgenur Ozen, Mustafa Dogan, Zafer Turkoglu, Dilay Bastug, Fatmagul Kusku Cabuk, Alper Gezdirici

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引用次数: 0

摘要

透明纤维瘤病综合征（HFS）是由ANTXR2基因变异引起的常染色体隐性遗传病。临床表现为丘疹和结节性皮肤病变、牙龈增生、关节挛缩和不同程度的骨受累。在本报告中，我们报告了一名患有HFS的3岁叙利亚男孩，详细介绍了他的临床和遗传概况，进一步了解了ANTXR2基因与HFS的基因型-表型相关性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Juvenile Hyaline Fibromatosis Syndrome: A Novel Variant in the ANTXR2 Gene Causing Severe Phenotype.

Hyaline fibromatosis syndrome (HFS) is an autosomal recessive disorder caused by variants in the ANTXR2 gene. Clinically, HFS is characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures, and bone involvement in variable degrees. In this report, we present a 3-year-old Syrian boy with HFS, detailing his clinical and genetic profile, furthering the understanding of genotype-phenotype correlation in the ANTXR2 gene and HFS.

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来源期刊

Pediatric Dermatology 医学-皮肤病学

CiteScore

3.20

自引率

6.70%

发文量

269

审稿时长

1 months

期刊介绍： Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.