Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol
Abstract 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...
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BMC
2025-07-01
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| Series: | BMC Oral Health |
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| Online Access: | https://doi.org/10.1186/s12903-025-06197-7 |
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| author | Nhat Minh Do Pierre Klienkoff Anne de Saint Martin Alexandra Jimenez-Armijo Elise Schaefer Gaétan Caravello Lucas Geyer Sarah Baer Laurent Marcoux François Clauss Agnès Bloch-Zupan |
| author_facet | Nhat Minh Do Pierre Klienkoff Anne de Saint Martin Alexandra Jimenez-Armijo Elise Schaefer Gaétan Caravello Lucas Geyer Sarah Baer Laurent Marcoux François Clauss Agnès Bloch-Zupan |
| author_sort | Nhat Minh Do |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-62897499663d4bca85b0774cef264da6 |
| institution | Kabale University |
| issn | 1472-6831 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Oral Health |
| spelling | doaj-art-62897499663d4bca85b0774cef264da62025-08-20T03:42:01ZengBMCBMC Oral Health1472-68312025-07-0125111210.1186/s12903-025-06197-7Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocolNhat Minh Do0Pierre Klienkoff1Anne de Saint Martin2Alexandra Jimenez-Armijo3Elise Schaefer4Gaétan Caravello5Lucas Geyer6Sarah Baer7Laurent Marcoux8François Clauss9Agnès Bloch-Zupan10Université de Strasbourg, Faculté de Chirurgie DentaireUniversité de Strasbourg, Faculté de Chirurgie DentaireHôpitaux Universitaires de Strasbourg (HUS), Neurologie PédiatriqueUniversité de Strasbourg, Faculté de Chirurgie DentaireHôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d’AlsaceHôpitaux Universitaires de Strasbourg (HUS), Pôle de Médecine Et Chirurgie Bucco-Dentaires, Centre de Référence Des Maladies Rares Orales Et Dentaires, CRMR O-Rares, Filière Santé Maladies Rares TETECOU, European Reference Network ERN CRANIOHôpitaux Universitaires de Strasbourg, Département de PathologieHôpitaux Universitaires de Strasbourg (HUS), Neurologie PédiatriqueHôpitaux Universitaires de Strasbourg (HUS)Université de Strasbourg, Faculté de Chirurgie DentaireUniversité de Strasbourg, Faculté de Chirurgie DentaireAbstract 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.https://doi.org/10.1186/s12903-025-06197-7Gingival fibromatosisGingival hyperplasiaGingivoplastyTemple-Baraitser SyndromeZimmermann-Laband SyndromeKCNH1 developmental and epileptic encephalopathy |
| spellingShingle | Nhat Minh Do Pierre Klienkoff Anne de Saint Martin Alexandra Jimenez-Armijo Elise Schaefer Gaétan Caravello Lucas Geyer Sarah Baer Laurent Marcoux François Clauss Agnès Bloch-Zupan Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol BMC Oral Health Gingival fibromatosis Gingival hyperplasia Gingivoplasty Temple-Baraitser Syndrome Zimmermann-Laband Syndrome KCNH1 developmental and epileptic encephalopathy |
| title | Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol |
| title_full | Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol |
| title_fullStr | Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol |
| title_full_unstemmed | Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol |
| title_short | Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol |
| title_sort | syndromic gingival fibromatosis associated with pathogenic variation in the voltage gated potassium channel gene kcnh1 a case report and proposed treatment protocol |
| topic | Gingival fibromatosis Gingival hyperplasia Gingivoplasty Temple-Baraitser Syndrome Zimmermann-Laband Syndrome KCNH1 developmental and epileptic encephalopathy |
| url | https://doi.org/10.1186/s12903-025-06197-7 |
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