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

Hereditary 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.

Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - September 24, 2020 Category: ENT & OMF Authors: Pierluigi Mariani, Khrystyna Zhurakivska, Rossella Santoro, Gregorio Laino, Diana Russo, Luigi Laino Tags: Case Report Source Type: research