Gingival fibromatosis (GF) is a rare oral condition characterized by proliferative fibrous overgrowth of the attached gingiva, marginal gingiva, and interdental papilla, typically presenting during the growth period, causing aesthetic, functional, and masticatory disturbances of the oral cavity and psychological discomfort.1 GF can present as either hereditary gingival fibromatosis (HGF), which may appear as an isolated entity or as part of a genetic disease or syndrome, or as idiopathic gingival fibromatosis.2 HGF has a variable clinical presentation. In some cases, it shows only minimal involvement, characterized by enlargement of the tuberosity area and buccal gingiva around the mandibular molars; however, in severe forms, it can involve both maxillary and mandibular gingivae. In the severe form, the gingival enlargement can be so massive that it may cover the crowns of the primary and permanentHereditary gingival fibromatosis (HGF) is a rare oral condition that may appear as an isolated entity or as part of a genetic disease or syndrome. Molecular and biochemical mechanisms that trigger this pathologic process are not completely understood. In this article, we present a rare case of hereditary gingival fibromatosis in conjunction with a syndromic phenotype, associated with a rare missense mutation of the KCNK4 gene. This mutation induces a change in the structure of the TRAAK channel belonging to the 2-pore potassium channels. The gain of function promoted by the mutation could represent the pathogenetic basis of gingival fibromatosis. (Oral Surg Oral Med Oral Pathol Oral Radiol 2021;131:e175-e182)

Hereditary gingival fibromatosis associated with the missense mutation of the KCNK4 gene

Mariani, Pierluigi;Zhurakivska, Khrystyna;Laino, Luigi
2021-01-01

Abstract

Gingival fibromatosis (GF) is a rare oral condition characterized by proliferative fibrous overgrowth of the attached gingiva, marginal gingiva, and interdental papilla, typically presenting during the growth period, causing aesthetic, functional, and masticatory disturbances of the oral cavity and psychological discomfort.1 GF can present as either hereditary gingival fibromatosis (HGF), which may appear as an isolated entity or as part of a genetic disease or syndrome, or as idiopathic gingival fibromatosis.2 HGF has a variable clinical presentation. In some cases, it shows only minimal involvement, characterized by enlargement of the tuberosity area and buccal gingiva around the mandibular molars; however, in severe forms, it can involve both maxillary and mandibular gingivae. In the severe form, the gingival enlargement can be so massive that it may cover the crowns of the primary and permanentHereditary gingival fibromatosis (HGF) is a rare oral condition that may appear as an isolated entity or as part of a genetic disease or syndrome. Molecular and biochemical mechanisms that trigger this pathologic process are not completely understood. In this article, we present a rare case of hereditary gingival fibromatosis in conjunction with a syndromic phenotype, associated with a rare missense mutation of the KCNK4 gene. This mutation induces a change in the structure of the TRAAK channel belonging to the 2-pore potassium channels. The gain of function promoted by the mutation could represent the pathogenetic basis of gingival fibromatosis. (Oral Surg Oral Med Oral Pathol Oral Radiol 2021;131:e175-e182)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11369/428986
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