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Article

Hyaline fibromatosis syndrome: A case report.

Oral surgery, oral medicine, oral pathology and oral radiology - 1 Dec 2020

Pereira Thaís Dos Santos Fontes, Sales Jéssica Félix de, Travassos Denise Vieira, Lanza Célia Regina, Castro Wagner Henriques, Gomes Carolina Cavaliéri, Fonseca Felipe Paiva, Silva Tarcília Aparecida, Gomez Ricardo Santiago

Abstract excerpt

Hyaline fibromatosis syndrome (HFS) is a rare monogenic disease inherited in an autosomal recessive pattern and characterized by hyaline deposits on the skin, mucosa, and multiple organs; osteoporosis; and joint contractures. This progressive condition is caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2). HFS is a disabling disease, and patients suffer from progressive pain...

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PMID: 32771412
DOI: 10.1016/j.oooo.2020.06.022

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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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