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Article

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

Pediatric dermatology - 1 Jan 2026

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

Abstract excerpt

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...

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Identifiers

PMID: 40907988
DOI: 10.1111/pde.70027

Genes

ANTXR2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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