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  • Title: Hyaline fibromatosis syndrome: A case report.
    Author: Pereira TDSF, Sales JF, Travassos DV, Lanza CR, Castro WH, Gomes CC, Fonseca FP, Silva TA, Gomez RS.
    Journal: Oral Surg Oral Med Oral Pathol Oral Radiol; 2020 Dec; 130(6):e328-e335. PubMed ID: 32771412.
    Abstract:
    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 and disfiguring symptoms. There are few published case reports detailing oral findings in patients with this condition. The present case report describes a 4-year-old female patient who showed severe manifestations of HFS, emphasizing the oral manifestations, the histopathologic aspects of HFS, the molecular pathogenesis, and the interdisciplinary management of patients affected by this condition.
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