Hyaline Fibromatosis Syndrome: a case report

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 progressively suffer from pain and disfiguring symptoms. Few case reports detailing the oral findings in patients with this condition have been published. The present case report describes a four-year-old female patient who shows severe manifestations of HFS, emphasizing the oral manifestations, its histopathological aspects, the molecular pathogenesis, and the interdisciplinary management of patients affected by this condition.