Familial Presentation of Ankyloglossia and Localized Periodontitis

Hajer A. Aldulaijan, BDS, MS; Shahad B. Alsharif, BDS, MS; Robert E. Cohen, DDS, MS, PhD; and Lisa M. Yerke, DDS, MS

Ankyloglossia (AG), commonly referred to as tongue-tie, is a congenital oral condition characterized by an abnormally thick, tight, or short lingual frenum that results in restriction of tongue mobility.¹ AG occurs during embryonic development as a result of insufficient degeneration of the lingual frenum.² It varies in severity and usually is associated with functional limitations in infants, including breastfeeding difficulties, atypical swallowing habits leading to malnutrition, and speech dysfunction later in life.³

The prevalence of AG generally has been reported to range from 2% to 4%, although a prevalence as high as 10% also has been observed.⁴ This variation might be due to lack of a universal definition of AG, or inconsistent diagnostic criteria.⁵ The precise etiology of AG remains to be elucidated, although genetic factors have been proposed.^6,7 Many reports describing the mode of familial inheritance are heterogenic, most likely due to the wide variation of AG severity and the absence of a universally accepted classification system, which has led to the use of multiple systems employing a variety of diagnostic criteria.^6,8

Periodontitis is an inflammatory disease caused primarily by accumulation of dental plaque, which results in progressive destruction of the tooth-supporting structures and, ultimately, tooth loss.⁹ In the United States, periodontal disease affects approximately 47% to 50% of the adult population¹⁰ and 0.2% to 0.5% of individuals less than 18 years old.¹¹ Historically, periodontitis had been classified into four distinct categories according to clinical presentation that varied by disease severity (chronic, aggressive, necrotizing, and periodontitis as a manifestation of systemic disease).¹² The 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions⁹ revised that system,¹³ based on emerging evidence that the chronic, aggressive, and necrotizing phenotypes share identical etiology and pathogenesis, and, therefore, it was determined that the nomenclature be revised to categorize all of those conditions as periodontitis.¹² Phenotypic differences continue to be recognized in the current (2017) classification system, with a localized aggressive presentation now described as "molar/incisor pattern." Genetic differences are believed to account for a majority of variations in clinical presentation and disease severity between what was previously described as chronic or acute periodontitis.

A review of the literature performed in March 2021 using MEDLINE/PubMed did not reveal any previous reports describing concurrent presentation of both AG and periodontitis. Accordingly, the authors describe three maternal sisters who presented with AG and a molar/incisor pattern of periodontitis.

Case Series

Case 1

A healthy 19-year-old African American female patient presented to the Postgraduate Periodontics Clinic at the University at Buffalo School of Dental Medicine (PG clinic) for evaluation. The medical history was unremarkable. There was no history of smoking, diabetes, or other systemic conditions, the patient did not report any history of medication or drug use, and vital signs were normal. She was without a chief complaint but aware of her periodontal status following a previous dental evaluation, which was characterized by minimal plaque accumulation¹⁴ in association with multiple 5 mm periodontal probing depths primarily at teeth Nos. 14, 15, 18, and 30. No mobility or furcation involvement was noted, 11.8% of sites were associated with bleeding on probing, and gingival recession was absent. There was radiographic evidence of mild horizontal bone loss at molars and incisors, as well as vertical bone loss at the mesial aspect of tooth No. 14 (Figure 1). No history of restorative dental treatment was noted.

Her mother, who accompanied the patient during periodontal examination, reported that her daughter had been treated for AG with a frenectomy procedure at age 1 due to complications associated with breastfeeding. A periodontal diagnosis of localized periodontitis, stage III, molar/incisor pattern, grade C, was established.¹²

Case 2

The patient in this case, a healthy 17-year-old African American female and the middle sister of the patient in Case 1, subsequently presented to the PG clinic with an interest in orthodontic therapy to close a diastema between her permanent maxillary incisors. The patient's mother reported that her daughter had been diagnosed with attention deficit/hyperactivity disorder (ADHD) and was taking methylphenidate 27 mg per day and clonidine 0.1 mg per day. The medical history otherwise was unremarkable, the patient was not taking any other medications, and vital signs were within normal range.

Upon periodontal examination, minimal plaque accumulation was noted,¹⁴ but multiple 4 mm to 8 mm pocket depths were associated primarily with teeth Nos. 3, 7, 14, 15, 18, 19, and 31. Mobility grade 1 was noted at teeth Nos. 7 and 19.¹⁵ Furcation involvement was associated with teeth Nos. 14, 15, 19, and 30, and suppuration was associated with teeth Nos. 7 and 19. Bleeding on probing was 10.7%, and recession was absent.

Upon questioning, the patient's mother reported that her daughter in this case previously had suffered from AG, which had been treated by frenectomy when she was 11 years old. The patient's mother also noted that the frenectomy procedure had been performed later than the procedure for the older sister (Case 1) since AG had not affected her ability to breastfeed. Review of the radiographs revealed mild horizontal bone loss in the molar and incisor regions, as well as vertical bone loss mesial to teeth Nos. 7, 15, and 30 and distal to teeth Nos. 19 and 30 (Figure 2). Multiple restored teeth were evident, as well as endodontic treatment at tooth No. 31. Following clinical examination, a diagnosis of localized periodontitis, stage III, molar/incisor pattern, grade C, was established.¹²

Case 3

Case 3, a healthy 15-year-old African American female patient and the youngest sister of Cases 1 and 2, subsequently presented to the PG clinic with a chief complaint of being upset from her "tongue-tie" and wanting to treat it. The patient's mother reported that this daughter previously had been diagnosed with ADHD and currently was taking methylphenidate 27 mg per day and clonidine 0.1 mg per day, but the medical history otherwise was unremarkable. The patient was not taking any other medications, and vital signs were within normal range.

Upon examination, minimal plaque accumulation was noted,¹⁴ but multiple 4 mm to 10 mm probing depths were associated primarily with teeth Nos. 3, 14, 18, 19, and 31. Mobility grade 1 was evident at tooth No. 19,¹⁵ and class II furcation involvement was noted at the mesiopalatal aspect of tooth No. 3. Bleeding on probing was detected at 28% of probing sites, and 1 mm of gingival recession was present at the lingual aspects of the mandibular incisor teeth. Review of the radiographs revealed horizontal bone loss at the molar and incisor regions, as well as vertical bone loss mesial to both Nos. 3 and 19 (Figure 3).

Upon further examination, AG of the lingual frenal attachment was apparent (Figure 4) and a class II (moderate) AG classification was assigned based on the 10 mm range of free tongue movement.⁸ A diagnosis of localized periodontitis, stage III, molar/incisor pattern, grade C, as well as the presence of mucogingival deformities and conditions around teeth (aberrant frenum), was established.¹²

Treatment

Due to the molar/incisor pattern of bone loss, the treatment plan proposed for all three sisters consisted of oral hygiene instructions, scaling and root planing in conjunction with systemic antibiotics (500 mg amoxicillin and 250 mg metronidazole three times per day for 7 days), followed by periodontal re-evaluation after 4 to 6 weeks. Depending on the patients' response to initial therapy, further treatment alternatives to be considered would include periodontal maintenance or surgical regenerative therapy.

Upon periodontal re-evaluation 4 weeks after initial therapy, all three patients presented with poor home care compliance. Moreover, each sister admitted that the antibiotics had not been obtained nor taken as prescribed. Unsurprisingly, there was no improvement in probing depth or bleeding on probing. Consequently, the importance of excellent plaque control and compliance for satisfactory case outcome was again reinforced, and home care instructions were again provided.

AG associated with the patient in Case 3 was corrected with a conventional frenectomy procedure using a 15c scalpel. Following administration of 2% lidocaine with 1:100,000 epinephrine, the frenulum was completely excised, and 5-0 resorbable chromic sutures were placed both at the floor of the mouth and ventral portion of the tongue. Upon postoperative evaluation 1 week later (Figure 5), the site had resolved well, and the patient was asymptomatic and without complaint. Normal function appeared to have been restored, and both the patient and her mother were satisfied with the resolution of AG. Unfortunately, all patients failed to return for subsequent re-evaluation or periodontal therapy despite repeated attempts to reschedule.

Discussion

AG has been reported to be a familial condition inherited as an autosomal dominant or autosomal recessive trait.^7,16,17 Although AG typically presents as an isolated condition,¹⁸ it can be associated with certain syndromes, such as abnormalities of missing mandibular incisors,^6,7 gastrointestinal abnormalities,² and cleft palate.¹⁹ However, there does not appear to be any previous reports describing an association of AG with periodontitis.

A diagnosis of localized periodontitis, stage III was made for all three daughters described in this report based on evidence of bone loss in excess of the amount typically associated with the existing minimal amount of biofilm deposits, as well as a molar/incisor pattern of bone loss. That clinical presentation also is considered as an indirect sign of a rapid rate of disease progression supporting classification as periodontitis grade C.¹² A family history of periodontitis also can favor a grade C classification.²⁰ In this case, all three daughters in this report shared only a maternal parent, with their mother orally verifying a personal family history of periodontitis and AG, again substantiating a grade C periodontitis classification for Cases 1, 2, and 3. Additionally, all three sisters share similar environmental and social risk factors, in addition to their shared maternal parent, that might collectively contribute to their mutual periodontitis diagnosis.

Conclusion

The present report is unique as it describes a family of three sisters having both AG and periodontitis. However, it is unknown whether a genetic linkage exists between AG and increased risk of development of a molar/incisor pattern of periodontitis, or if the observed presentation between AG and periodontitis is unique to this family. Consequently, future studies of compliant patients with well-documented periodontal and medical histories would be indicated to further elucidate whether common genetic factors contribute to the pathogenesis of those conditions.

Acknowledgment

This study was supported in part by the Department of Periodontics and Endodontics, University at Buffalo, School of Dental Medicine, The State University of New York.

About the Authors

Hajer A. Aldulaijan, BDS, MS

Assistant Professor, King Saud University, College of Dentistry, Department of Periodontics and Community Dentistry, Riyadh, Saudi Arabia

Shahad B. Alsharif, BDS, MS

Assistant Professor, King Abdulaziz University, Faculty of Dentistry, Department of Periodontology, Jeddah, Saudi Arabia

Robert E. Cohen, DDS, MS, PhD

Professor, University at Buffalo, The State University of New York, School of Dental Medicine, Department of Periodontics and Endodontics, Buffalo, New York

Lisa M. Yerke, DDS, MS

Clinical Associate Professor, and Director, Advanced Education Program in Periodontics, University at Buffalo, The State University of New York, School of Dental Medicine, Department of Periodontics and Endodontics, Buffalo, New York

References

1. Hall DM, Renfrew MJ. Tongue tie. Arch Dis Child. 2005;90(12):1211-1215.

2. Matsumaru D, Murashima A, Fukushima J, et al. Systematic stereoscopic analyses for cloacal development: the origin of anorectal malformations. Sci Rep. 2015;5:13943.

3. Webb AN, Hao W, Hong P. The effect of tongue-tie division on breastfeeding and speech articulation: a systematic review. Int J Pediatr Otorhinolaryngol. 2013;77(5):635-646.

4. Hogan M, Westcott C, Griffiths M. Randomized, controlled trial of division of tongue-tie in infants with feeding problems. J Paediatr Child Health. 2005;41(5-6):246-250.

5. Segal LM, Stephenson R, Dawes M, Feldman P. Prevalence, diagnosis, and treatment of ankyloglossia: methodologic review. Can Fam Physician. 2007;53(6):1027-1033.

6. Acevedo AC, da Fonseca JA, Grinham J, et al. Autosomal-dominant ankyloglossia and tooth number anomalies. J Dent Res. 2010;89(2):128-132.

7. Lenormand A, Khonsari R, Corre P, et al. Familial autosomal dominant severe ankyloglossia with tooth abnormalities. Am J Med Genet A. 2018;176(7):1614-1617.

8. Kotlow LA. Ankyloglossia (tongue-tie): a diagnostic and treatment quandary. Quintessence Int. 1999;30(4):259-262.

9. Papapanou PN, Sanz M, Buduneli N, et al. Periodontitis: consensus report of workgroup 2 of the 2017 World Workshop on the Classification of Periodontal and Peri-Implant Diseases and Conditions. J Clin Periodontol. 2018;45 suppl 20:S162-S170.

10. Eke PI, Dye BA, Wei L, et al. Update on prevalence of periodontitis in adults in the United States: NHANES 2009 to 2012. J Periodontol. 2015;

86(5):611-622.

11. Loe H, Brown LJ. Early onset periodontitis in the United States of America. J Periodontol. 1991;62(10):608-616.

12. Tonetti MS, Greenwell H, Kornman KS. Staging and grading of periodontitis: framework and proposal of a new classification and case definition. J Periodontol. 2018;89 suppl 1:S159-S172.

13. Armitage GC. Development of a classification system for periodontal diseases and conditions. Ann Periodontol. 1999;4(1):1-6.

14. Silness J, Loe H. Periodontal disease in pregnancy. II. Correlation between oral hygiene and periodontal condtion. Acta Odontol Scand. 1964;22:121-135.

15. Miller SC. Textbook of Periodontia (Oral Medicine). Philadelphia, PA: Blakiston; 1950.

16. Devasya A, Sarpangala M. Familial ankyloglossia - a rare report of three cases in a family. J Clin Diagn Res. 2017;11(2):ZJ03-ZJ04.

17. Klockars T. Familial ankyloglossia (tongue-tie). Int J Pediatr Otorhinolaryngol. 2007;71(8):1321-1324.

18. Becker S, Mendez MD. Ankyloglossia. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2022.

19. Rice R, Spencer-Dene B, Connor EC, et al. Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate. J Clin Invest. 2004;113(12):1692-1700.

20. Miyamoto T, Kumagai T, Khan S, Reddy MS. Application of 2017 new classification of periodontal diseases and conditions to localized aggressive periodontitis: case series. Clin Adv Periodontics. 2019;9(4):185-191.