Juvenile Hyaline Fibromatosis Syndrome: A Novel Variant in the <scp> <i>ANTXR2</i> </scp> 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.
Authors
- Mustafa Doğan (ORCID: https://orcid.org/0000-0003-0464-6565)
- Alper Gezdirici (ORCID: https://orcid.org/0000-0002-2432-9279)
- Özlem Özen (ORCID: https://orcid.org/0000-0002-9082-1317)
- Fatmagül Çabuk (ORCID: https://orcid.org/0000-0002-7833-9341)
- Zafer Türkoğlu (ORCID: https://orcid.org/0000-0002-4357-6646)
- Ilayda Akyon
- Dilay Bastug (ORCID: https://orcid.org/0009-0002-0246-2463)
Institutions
- University of Health Science (KH)
- Sağlık Bilimleri Üniversitesi (TR)
- University of Health Sciences Antigua (AG)
Publication Details
- Journal
- Pediatric Dermatology
- Published
- 2025-09-04
- DOI
- https://doi.org/10.1111/pde.70027
- Primary Topic
- Bacillus and Francisella bacterial research
- Type
- article
- Field-Weighted Citation Impact
- 0.00