Juvenile Hyaline Fibromatosis Syndrome: A Novel Variant in the ANTXR2 Gene Causing Severe Phenotype
Pediatric Dermatology, cilt.43, sa.1, ss.174-178, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 43 Sayı: 1
- Basım Tarihi: 2026
- Doi Numarası: 10.1111/pde.70027
- Dergi Adı: Pediatric Dermatology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE, Academic Search Ultimate (EBSCO), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest)
- Sayfa Sayıları: ss.174-178
- Anahtar Kelimeler: ANTXR2, fibroma, gingival hypertrophy, joint contractures, subcutaneous nodules
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.