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Clinical and genetic evaluations of Zimmermann-Laband syndrome with gingival fibromatosis: a rare case report

  • Yang Gu1,†
  • Xiaoxue Yang1,†
  • Xiaohe Guo1
  • Meiling Wu1
  • Xiaoyao Huang1
  • Hao Guo1
  • Shijie Li1
  • Fei Fu1
  • Mingyuan Liu2
  • Kun Xuan1,*,
  • Anqi Liu1,3,*,

1Department of Preventive Dentistry, School of Stomatology, Air Force Medical University, State Key Laboratory of Military Stomatology & National Clinical Research Center for Oral Diseases & Shaanxi Clinical Research Center for Oral Diseases, 710032 Xi’an, Shaanxi, China

2Department of Oral and Maxillofacial Surgery, Qinghai University Affiliated Hospital, 810000 Xining, Qinghai, China

3Department of Stomatology, The 985 Hospital of PLA, 030001 Taiyuan, Shanxi, China

DOI: 10.22514/jocpd.2024.095 Vol.48,Issue 4,July 2024 pp.206-213

Submitted: 27 January 2023 Accepted: 24 March 2023

Published: 03 July 2024

*Corresponding Author(s): Kun Xuan E-mail: xuankun@fmmu.edu.cn
*Corresponding Author(s): Anqi Liu E-mail: liuanqi@fmmu.edu.cn

† These authors contributed equally.

Abstract

Zimmermann-Laband Syndrome (ZLS; MIM 135500) is a rare genetic disorder with the main clinical manifestations of gingival fibromatosis and finger/toe nail hypoplasia. KCNH1 (potassium channel, voltage-gated, subfamily H, member-1), KCNN3 (potassium channel, voltage-gated, subfamily H, member-3) and ATP6V1B2 (ATPase H+ transporting V1 subunit B2) genes are considered causative genes for ZLS. However, there are limited reports about the diverse clinical presentation and genetic heterogeneity. Reporting more information on phenotype-genotype correlation and the treatment of ZLS is necessary. This case reported a 2-year-old patient with gingival enlargement that failure of eruption of the deciduous teeth and severe hypoplasia of nails. Based on a systemic examination and a review of the relevant literature, we made an initial clinical diagnosis of ZLS. A novel pathogenic variant in the KCNH1 gene was identified using whole-exome sequencing to substantiate our preliminary diagnosis. The histopathological results were consistent with gingival fibromatosis. Gingivectomy and gingivoplasty were performed under general anesthesia. After surgery, the gingival appearance improved significantly, and the masticatory function of the teeth was restored. After 2-year follow-up, the gingival showed slightly hyperplasia. Systemic examination and gene sequencing firstly contribute to provide information for an early diagnosis for ZLS, then timely removal of the hyperplastic gingival facilitates the establishment of a normal occlusal relationship and improves oral aesthetics.


Keywords

Zimmermann-Laband syndrome; Gingival fibromatosis; Gingivectomy; Case report


Cite and Share

Yang Gu,Xiaoxue Yang,Xiaohe Guo,Meiling Wu,Xiaoyao Huang,Hao Guo,Shijie Li,Fei Fu,Mingyuan Liu,Kun Xuan,Anqi Liu. Clinical and genetic evaluations of Zimmermann-Laband syndrome with gingival fibromatosis: a rare case report. Journal of Clinical Pediatric Dentistry. 2024. 48(4);206-213.

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