Asset Details
Do you wish to reserve the book?
Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol
Do you wish to request the book?
Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol
2025
Overview
Background
The
KCNH1
gene (OMIM #603,305) encodes a voltage-gated potassium channel primarily found in the central nervous system. Recent discoveries have linked pathogenic variations in this gene to Temple-Baraitser syndrome (TMBTS, OMIM #611,816) and Zimmermann-Laband syndrome (ZLS, OMIM #135,500). A common manifestation of these syndromes is gingival fibromatosis, which may partially or completely cover tooth crowns, leading in some cases to functional and aesthetic problems, as well as delayed tooth eruption.
Case presentation
A four-year-old boy and his parents first consulted for delayed primary molars eruption. Shortly after birth, he was diagnosed with a developmental encephalopathy caused by a de novo pathogenic variant in
KCNH1
.
Treatment
The first step of oral treatment consisted of myofunctional and speech/language therapy to stimulate biting and chewing. It also helped with the rehabilitation of proper tongue function. This was followed by a gingivoplasty to expose the submerged teeth. We propose a clinical approach to optimize disease management. This aims to minimize complications associated with this rare disorder.
Conclusion
This case illustrates the need for appropriate and early gingivoplasty to prevent teeth impaction and restore dental function. Additionally, it explores potential complications and provides grounds for a comprehensive protocol for managing gingival fibromatosis for patients with
KCNH1
variant.
Publisher
BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
Subject
/ Epilepsy
/ Ether-A-Go-Go Potassium Channels - genetics
/ Fibromas
/ Fibromatosis, Gingival - diagnosis
/ Fibromatosis, Gingival - genetics
/ Fibromatosis, Gingival - therapy
/ Genes
/ Gingiva
/ Humans
/ Intellectual Disability - genetics
/ KCNH1 developmental and epileptic encephalopathy
/ Male
/ Medicine
/ Molars
/ Oral and Maxillofacial Surgery
/ Potassium channels (voltage-gated)
/ Potassium Channels, Voltage-Gated - genetics
/ Teeth
