A CLINICAL CASE OF ORTHOPAEDIC DENTAL REHABILITATION OF A PATIENT WITH CLOUSTON SYNDROME AND CONGENITAL EDENTULISM
Abstract and keywords
Abstract (English):
Subject. Clouston syndrome is within the list of rare (orphan) congenital diseases. The issue of peculiarities in dental rehabilitation of patients with Clouston syndrome and congenital edentulism remains discussable. There are no approved clinical guidelines regarding this problem for dental practitioners. Aim ― improvement of diagnostic and treatment procedures efficacy for children with Clouston syndrome and congenital edentulism in the orthopedic dentistry and orthodontics clinic. Methodology. In order to demonstrate capabilities of efficacious orthopedic dental rehabilitation, a clinical case of a 14-years old patient with Clouston syndrome and congenital edentulism in an ambiguous oral cavity condition is presented, demonstrating the most justified and predictable approach to clinical management of patients. Results. The paper describes results of analysis of domestic and foreign literature devoted to the issue of determining distinctive diagnostic features of patients with Clouston syndrome used in the diagnostic process in the presented clinical case. Technological peculiarities and advantages of the chosen minimally invasive treatment approach – application of removable dentures – are described. The article demonstrates photographs depicting orthopaedic dental treatment results providing evidence of aesthetic, functional and social rehabilitation of the patient. Findings. The presented literature review of main distinctive clinical features of Clouston syndrome is an efficacious diagnostic algorithm in clinical orthopedic dentistry and orthodontics that forms a clear route for allied specialists in terms of diagnosis of this pathology in patients. The presented clinical case of minimally invasive orrthopedica dental treatment methods for rehabilitation of patients with Clouston syndrome and congenital edentulism is an option that provides for predictable satisfactory aesthetic and functional results of treatment, social adaptation of patients and a wide spectrum of further clinical decisions in short- and long-term follow-up management of patients.

Keywords:
Clouston syndrome, ectodermal dysplasia, congenital edentulism, orthopaedic dental treatment, removable dentures, orphan diseases
References

1. Belyakov, YU. A. (2008). Nasledstvennye bolezni i sindromy v stomatologicheskoj praktike [Hereditary diseases and syndromes in dental practice]. 2. Moscow : Medicine, 240. (In Russ.)

2. Damarad, A. L., Dubovik, A. A. (2016). Geneticheskie i vrozhdyonnye sindromy, associirovannye s poterej volos u detej: prichiny, klinicheskaya kartina [Genetic and congenital syndromes associated with hair loss in children: causes, clinical features]. Dermatovenerologiya. Kosmetologiya [Dermatovenereology. Cosmetology], 1 (2), 43-59. (In Russ.)

3. CHujkin, O. S., Topol'nickij, O. Z., Gil'manov, M. V., Viktorova, T. V., Makusheva, N. V. (2018). Znachenie opredeleniya polimorfnyh variantov - 1298A>S i -677S>T gena metilentetragidrofolatreduktazy v prognozirovanii vrozhdyonnoj patologii chelyustno-licevoj oblasti [Importance of the determination of polymorphic variants -1298a> c and -677c> t methylenetheradhydropholate reductase gene in prediction of the congenital pathology of maxillofacial area]. Problemy stomatologii [Actual problems in dentistry], 2(14), 126-130. DOI:https://doi.org/10.18481/2077-7566-2018-14-2-126-130. (In Russ.)

4. Kennet, L. D. (2011). Nasledstvennye sindromy po Devidu Smitu. Atlas-spravochnik [Hereditary syndromes according to David Smith. Atlas-reference]. Moscow : Practice, 1024. (In Russ.)

5. Kolesov, M. A., Pankratova, N. V. (2004). Ektodermal'naya displaziya i eyo proyavleniya v polosti rta [Ectodermal dysplasia and its manifestations in the oral cavity]. Ortodontiya [Orthodontics], 1, 21-25. (In Russ.)

6. Korotkih, N. G., SHarova, N. M., Kostina, S. V. (2009). Ochagovaya alopeciya u monozigotnyh bliznecov kak odno iz proyavleniya sindroma Kloustona [Alopecia areata in monozygotic twins as one of the manifestations of clouston syndrome]. Voprosy prakticheskoj pediatrii [Clinical practice in pediatrics], 4 (4), 88-90. (In Russ.)

7. Kozlova, S. I., Demikova, N. S., Semanova, E., Blinnikova, O. E. (1996). Nasledstvennye sindromy i mediko-geneticheskoe konsul'tirovanie. Atlas-spravochnik [Hereditary syndromes and medical genetic counseling. Atlas-reference]. 2. Moscow : Practice, 416. (In Russ.)

8. Novikov, P. V. (2011). Redkie (orfannye) nasledstvennye i vrozhdyonnye bolezni u detej: problem i zadachi na sovremennom etape [Rare (orphan) hereditary and congenital diseases in children: current problems and tasks]. Voprosy prakticheskoj pediatrii [Clinical practice in pediatrics], 1 (6), 88-90. (In Russ.)

9. Novikov, P. V. (2013). Pravovyeaspektyredkih (orfannyh) zabolevanij v Rossiii v mire [Legal issues relating to rare (orphan) diseases - russian and international experience]. Medicina [Medicine], 4, 53-73. (In Russ.)

10. Galonskij, V. G., Tarasova, N. V., Chernov, V. N., Gradoboev, A. V. (2020). Osobennosti s"yomnogo zubnogo protezirovaniya u detej i podrostkov s vrozhdyonnoj adentiej i ektodermal'noj displaziej [Features of overdenture tooth replacement in children and adolescents with congenital adentia and ectodermal]. Problemy stomatologii [Actual problems in dentistry], 1 (16), 98-107. DOI:https://doi.org/10.18481/2077-7566-20-16-1-98-107 (In Russ.)

11. Galonskij, V. G., Radkevich, A. A., Chernov, V. N., Tarasova, N. V., Gradoboev, A. V., ed. Ushnitsky, I. D. (2020). Otdalyonnye morfologicheskie i funkcional'nye rezul'taty ortopedicheskoj reabilitacii bol'nyh s ektodermal'noj displaziej i polnoj vrozhdyonnoj adentiej [Late morphological and functional results of orthopaedic rehabilitation for patients with damaged ectodermal dysplasia and complete congenital edentulism]. Aktual'nye problemy i perspektivy razvitiya stomatologii v usloviyah Severa. Sbornik statej mezhregional'noj nauchno-prakticheskoj konferencii, posvyashchyonnoj 100-letiyu stomatologicheskoj sluzhby Respubliki Saha (YAkutiya) / pod red. I. D. Ushnickogo [Actual problems and prospects for the development of dentistry in the North. Collection of articles of the interregional scientific-practical conference dedicated to the 100th anniversary of the dental service of the Republic of Sakha (Yakutia)], Yakutsk : Publishing house of the North-Eastern Federal University, 309-351. (In Russ.)

12. Tokarev, P. V., SHulaev, A. V., Saleeva, R. A., Tokareva, L. V., Gajsina, L. A. (2019). Primenenie rechevogo pasporta v reabilitacii detej s vrozhdyonnymi chelyustno-licevymi porokami razvitiya [Use of the speech passport in rehabilitation of children with congenital maxillofacial malformations]. Problemy stomatologii [Actual problems in dentistry], 2 (15), 79-83. DOI:https://doi.org/10.18481/2077-7566-2019-15-2-79-83 (In Russ.)

13. Soloshenko, E. N. (2009). Klinicheskie raznovidnosti alopecij: patogenez, differencial'naya diagnostika, terapiya [Clinical varieties of alopecia: pathogenesis, differential diagnosis, therapy]. Mezhdunarodnyj medicinskij zhurnal [International medical journal], 1, 102-109. (In Russ.)

14. Galonskij, V. G., Radkevich, A. A., SHushakova, A. A., Tumshevic, V. O. (2011). Ektodermal'naya displaziya: harakternye klinicheskie priznaki i metody stomatologicheskoj reabilitacii [Ectodermal dysplasia: characteristic clinical signs and methods of dental rehabilitation]. Sibirskij medicinskij zhurnal [Siberian Medical Journal], 2 (26), 21-27. (In Russ.)

15. Cammarata-Scalisi, F., Rinelli, M., Pisaneschi, E., Diociauti, A., Willoughby, C., Avendano, A., Digilio, C., Novelli, A. Callea, M. (2019). Novel clinical features associated with Clouston syndrome. International Journal of Dermatology, 58, 1-4. DOI:https://doi.org/10.1111/ijd.14507.

16. Clouston, H. R. (1929). A hereditary ectodermal dystrophy. Canadian Medical Association Journal, 21, 18-31.

17. Marahonov, A. V., Skoblov, M. YU., Galkina, V. A., Zinchenko, R. A. (2012). Clouston syndrome: first case in Russia. Balkan J. Med. Genet, 15 (1), 51-54.

18. Sanches, S., Rebellato, P. R. O., Fabre, A. B., Campos, G. L. M. (2017). Do you know this syndrome ? Cloustone syndrome. An. Bras. Dermatol, 92 (3), 417-418. DOI: http://dx.doi.org/10.1590/abd1806-4841.20175716.

19. Fraser, F. C., Kaloustian, V. M. (2001). A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED). Am. J. Med. Genet, 100 (2), 164-168. DOI.org/10.1002/1096-8628 (20010422)100:2<164::AID-AJMG1244>3.0.CO;2-W.

20. Giansanti, J. S., Long, S. M., Rankin, J. L. (1974). The «tooth and nail» type of autosomal dominant ectodermal dysplasia. Oral Surg. Oral Med. Oral Pathol, 4 (37), 576-582.

21. Singh, T., Singh, R., Singh, G. P., Singh, J. P. (2013). Hypohidrotic ectodermal dysplasia: A felicitous approach to esthetic and prosthetic management. Int. J. Clin. Pediatr Dent, 6 (2), 140-145. DOI:https://doi.org/10.5005/jp-journals-10005-1207.

22. Hudson, C. D., Witkop, C. J. (1975). Autosomal dominant hypodontia with nail dysgenesis. Report of twenty-nine cases in six families. Oral Surg. Oral Med. Oral Pathol, 3 (39), 409-423.

23. Agarwal, N., Singh, P. K., Gupta, K., Gupta, N., Kabra, M. (2016). Identification of GJB6 gene mutation in an Indian man with Clouston syndrome. Indian J. Dermatol. Venereol. Leprol, 82, 697-700. DOI:https://doi.org/10.4103/0378-6323.190855.

24. Kibar, Z., Dube, M. P., Powell, J. (2000). Cloustonhidrotic ectodermal dysplasia (HED): Genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. Eur. J. Hum. Genet. Eur. J. Hum. Genet, 8(5), 372-380. DOI:https://doi.org/10.1038/sj.ejhg.5200471.

25. Lamartine, J., Laoudj, D., Blanchet-Bardon, C. (2000). Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family. B. J. Dermatol, 142 (2), 248-252.

26. Khatter, S., Puri, R. D., Mahay, S. B., Bhai, P.,Saxena, R., Verma, I. C. (2019). Mutation - proved Clouston syndrome in a large Indian family with a variant phenotype. Indian J. of Dermatology, 64(2), 143-145. DOI:https://doi.org/10.4103/ijd.IJD_510_17.

27. Liu, Y. T., Guo, K., Li, J., Liu, Y., Zeng, W. H., Geng, S. M. (2015). Novel mutations in GJB6 and GJB2 in Clouston syndrome. Clin. Exp. Dermatol, 40(7), 770-773. DOI.org/10.1111/ced.12654.

28. Smith, R. A., Vargervik, K., Kearns, G., Bosch, C., Koumjian, J. (1993). Placement of an endosseous implant in a growing child with ectodermal dysplasia. Oral Surg. Oral Med. Oral Pathol, 6 (75), 669-673.

29. Tan, E., Tay, Y. K. (2000). What syndrome is this? Hidrotic ectodermal dysplasia (Clouston syndrome). Pediatr Dermatol, 17 (1), 65-67.

30. Radhakrishna, U., Blouin, J. L., Mehenni, H., Mehta, T. Y., Sheth, F. J., Sheth, J. J., Solanki, J. V., Antonarakis, S. E. (1997). The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. Am. J Med. Genet, 71(1), 80-86. DOI.org/10.1002/ (SICI) 1096-8628(19970711)71:1<80 :: AID-AJMG15>3.0.CO;2-R.


Login or Create
* Forgot password?