Do Nhat Minh, Klienkoff Pierre, de Saint Martin Anne, Jimenez-Armijo Alexandra, Schaefer Elise, Caravello Gaétan, Geyer Lucas, Baer Sarah, Marcoux Laurent, Clauss François, Bloch-Zupan Agnès
Université de Strasbourg, Faculté de Chirurgie Dentaire, Strasbourg, France.
Hôpitaux 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 CRANIO, Strasbourg, France.
BMC Oral Health. 2025 Jul 2;25(1):997. doi: 10.1186/s12903-025-06197-7.
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.
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.
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.
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.
KCNH1基因（OMIM编号#603,305）编码一种主要存在于中枢神经系统的电压门控钾通道。最近的研究发现，该基因的致病性变异与坦普尔 - 巴拉伊特瑟综合征（TMBTS，OMIM编号#611,816）和齐默尔曼 - 拉班德综合征（ZLS，OMIM编号#135,500）有关。这些综合征的一个常见表现是牙龈纤维瘤病，它可能部分或完全覆盖牙冠，在某些情况下会导致功能和美观问题，以及牙齿萌出延迟。
一名4岁男孩及其父母首次因乳牙萌出延迟前来咨询。出生后不久，他被诊断出患有由KCNH1基因的新生致病性变异引起的发育性脑病。
口腔治疗的第一步包括肌功能和言语/语言治疗，以刺激咬合和咀嚼。这也有助于恢复正常的舌功能。随后进行牙龈成形术以暴露被埋没的牙齿。我们提出了一种优化疾病管理的临床方法。其目的是尽量减少与这种罕见疾病相关联的并发症。
该病例表明需要进行适当的早期牙龈成形术，以防止牙齿阻生并恢复牙齿功能。此外，它探讨了潜在的并发症，并为KCNH1基因变异患者管理牙龈纤维瘤病的综合方案提供了依据。
