Juvenile Hyaline Fibromatosis: Report of a Case with a Novel ANTXR2 Gene Mutation.

ABSTRACT: BACKGROUND Juvenile hyaline fibromatosis is a rare autosomal recessive disorder with unknown prevalence characterized by abnormal development of hyalinized fibrous tissue usually in the skin, mucosa, bone, and often the internal organs. Here, we report the case of a 7-year-old girl from a family with ANTXR2 mutation confirming JHF. CASE REPORT The girl presented with multiple painless soft-tissue swellings affecting the ears, forehead, and scalp. Excisional biopsies of the masses reported positive immunohistochemical staining for collagen type VI in the extracellular matrix area, which indicated collagen VI accumulation. Genetic analysis was performed using whole-exome sequencing. The variants were further validated using Sanger sequencing in trio-based approach. We identified a novel muta

SUBMITTER: Choochuen P 

PROVIDER: S-EPMC9245060 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature