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Article

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

The American journal of case reports - 26 Jun 2022

Choochuen Pongsakorn, Laochareonsuk Wison, Tanaanantarak Pattama, Kanjanapradit Kanet, Sangkhathat Surasak

Abstract excerpt

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...

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Identifiers

PMID: 35752930
DOI: 10.12659/AJCR.935921
PMCID: PMC9245060

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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