Periodontal treatment of two siblings with juvenile hyaline fibromatosis

Abstract

Although there was linear marginal gingival inflammation, no remarkable enlargement was noted at last appointment. Histopathological findings showed increased amounts of subepithelial nodular connective tissue, thinned epithelial mucosa, separated inter-cellular bridges and decreased numbers of connective tissue cells in gingival tissue samples. Electron microscopic examinations supported the histopathological findings. Mutation screening of CMG2 demonstrated that the siblings were homozygous for a pathogenic missense mutation, V386F. Our clinical findings demonstrate that gingivectomy is useful and frequent periodontal visits are important for maintaining oral hygiene and decreasing growth rate of gingiva in JHF.

A novel point mutation in the gene encoding capillary morphogenesis protein 2 in a Japanese patient with juvenile hyaline fibromatosis

“…To the best of our knowledge, only 21 pathogenic mutations in ANTXR2 have been reported in patients with JHF or ISH 2,3,8 . The mutations found in the present case were a heterozygous c.1074delT mutation and a heterozygous c.1181T→C mutation.…”

“…To the best of our knowledge, only 21 pathogenic mutations in ANTXR2 have been reported in patients with JHF or ISH. 2,3,8 The mutations found in the present case were a heterozygous c.1074delT mutation and a heterozygous c.1181TfiC mutation. The c.1074delT mutation results in a predicted frameshift which includes 49 novel amino acids leading to a premature stop.…”

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

“…Gingival hyperplasia requires special dental care and many dental consultations to promote strict oral hygiene [71]. Gingivectomy may improve the quality of oral hygiene and nourishment by improving mastication and preventing gingival blood loss [72, 73]. Ablative laser surgery may be a reasonable choice and may be useful, at least as an adjunctive treatment [74].…”

Juvenile hyaline fibromatosis: A 10-year follow-up

“…Hence, the main complications related to JHF are arising from contractions of joints and gingival overgrowth. [11]…”

“…[11] Unraveling of this gene mutation responsible for this condition may lead the researchers correct this fundamental defect with gene therapies in the future and results with the cure of this life-restraining disease. [12]…”