Hyaline fibromatosis syndrome: a case report
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.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Tha ís dos Santos Fontes Pereira, Jéssica Félix de Sales, Denise Vieira Travassos, Célia Regina Lanza, Wagner Henriques Castro, Carolina Cavaliéri Gomes, Felipe Paiva Fonseca, Tarcília Aparecida Silva, Ricardo Santiago Gomez Tags: Case Report Source Type: research
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