Oral Manifestations of Dystrophic Epidermolysis Bullosa: Four Case Reports

Yıl 2024, Cilt: 11 Sayı: 2, 218 - 222, 19.08.2024

Rabia Duman Tepe , Melek Tufan Yücesoy , Hülya Çakır Karabaş

https://doi.org/10.15311/selcukdentj.1370884

Öz

Background: This case report aims to contribute to the understanding of oral findings and dental approaches in dystrophic epidermolysis bullosa, a rare hereditary disease.

Cases: We reported four congenital dystrophic epidermolysis bullosa cases from two separate families with clinical and radiographic findings in this case report. Erosive-cicatrized lesions were observed on the skin in all cases. Pseudosyndactyly was present in two cases. In the intraoral examination, reduction in mouth opening, obliteration of the vestibule sulcus, ankyloglossia, and many decayed teeth were observed in all cases. There was no intraoral lesion in two cases, but loss of lingual papillae. Intraoral bullae and erosive lesion formation were observed in two cases.

Conclusions: Dystrophic epidermolysis bullosa is a rare hereditary disease. Lesions are usually seen on the skin, but mucosal involvement is also common. For this reason, dentists should know the oral manifestations of this disease and the dentist's approach in detail.

Anahtar Kelimeler

ankyloglosia, dental caries, dystrophic epidermolysis bullosa, epidermolysis bullosa, microstomia

Distrofik Epidermolizis Büllozanın Oral Bulguları: Dört Vaka Sunumu

Öz

Amaç: Bu vaka raporu, nadir görülen kalıtsal bir hastalık olan distrofik epidermolizis büllozanın ağız bulguları ve diş hekimliğine yaklaşımı hakkındaki bilgilere katkıda bulunmayı amaçlamaktadır.

Olgu Sunumu: Bu olgu sunumunda iki ayrı aileden dört konjenital distrofik epidermolizis bülloza olgusunu klinik ve radyografik bulgularıyla bildirdik. Tüm vakalarda ciltte eroziv skatrize lezyonlar gözlendi. İki olguda psödosindaktili mevcuttu. Ağız içi muayenede tüm vakalarda ağız açıklığında azalma, vestibül sulkusta obliterasyon, ankiloglossi ve çok sayıda dişte çürük gözlendi. İki olguda ağız içi lezyon yoktu ancak lingual papilla kaybı vardı. İki olguda ağız içi bül ve eroziv lezyon oluşumu gözlendi.

Sonuç: Distrofik epidermolizis bülloza nadir görülen kalıtsal bir hastalıktır. Lezyonlar genellikle deride görülmekle birlikte mukozal tutulum da sıktır. Bu nedenle diş hekimlerinin bu hastalığın ağızdaki belirtilerini ve diş hekiminin yaklaşımını detaylı olarak bilmesi gerekmektedir.

Anahtar Kelimeler

ankyloglosia, diş çürüğü, distrofik epidermolizis bülloza, epidermolizis bülloza, mikrostomi

Kaynakça

• 1. Osipowicz K, Wychowanski P, Nieckula P, Shamsa S, Wertheim-Tysarowska K, Wozniak K, Kowalewski C. Efficacy of gentamicin 0.3% solution of oral erosions healing in patients with severe generalized recessive dystrophic epidermolysis bullosa and its impact on the expression of type VII collagen. Postepy Dermatol Alergol. 2021 ; 38 (6) :979-984.
• 2. Uitto J, Bruckner-Tuderman L, McGrath JA, Riedl R, Robinson C. EB2017-Progress in Epidermolysis Bullosa Research toward Treatment and Cure. J Invest Dermatol. 2018; 138 (5) :1010-1016.
• 3. Gülşen E , Yavuz İ. “Epidermolizis Bülloza”. HRU International Journal of Dentistry and Oral Research. 2021; 1 (1):19-30.
• 4. Polizzi A, Santonocito S, Romeo P, Quinzi V, Mummolo S. et al. ‘’Oral Alterations in Heritable Epidermolysis Bullosa: A ClinicalStudy and Literature Review’’ BioMed Research International; New York Vol. 2022; 2022 :6493156.
• 5. Laimer M, Prodinger C, Bauer JW. Hereditäre Epidermolysen. JDDG -Journal of the German Society of Dermatology. Wiley-VCH Verlag; 2015; 13(11) :1125–33.
• 6. Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs. J Am Acad Dermatol 2009; 61 (3) :387–404.
• 7. Kasperkiewicz M, Sadik CD, Bieber K, Ibrahim SM, Manz RA, Schmidt E, Zillikens D, Ludwig RJ. Epidermolysis Bullosa Acquisita: From Pathophysiology to Novel Therapeutic Options. J Invest Dermatol. 2016; 136 (1) :24-33.
• 8. Bayar ÖF, Ak G. Squamous Hücreli Karsinom Gelişen Epidermolizis Bülloza Ve Dental Tedavi Yaklaşimlari. Atatürk Üniversitesi Diş Hekimliği Fakültesi Dergisi. 2015; 25 (13) :130-137.
• 9. Jayakaran T. The Effect of Drugs in the Oral Cavity-A Review. 2014; 6 (2) :89-96.
• 10. Hou PC, Wang HT, Abhee S, Tu WT, McGrath JA, Hsu CK. Investigational Treatments for Epidermolysis Bullosa. Am J Clin Dermatol. 2021; 22 (6) :801-817.
• 11. Krämer S, Lucas J, Gamboa F, Peñarrocha Diago M, Peñarrocha Oltra D, Guzmán-Letelier M. et al. Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa. Spec Care Dentist. 2020; 40 Suppl 1(Suppl 1):3-81.
• 12. Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A. et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020; 183 (4) :614-627.
• 13. Bolling MC, Lemmink HH, Jansen GHL, Jonkman MF. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. Br J Dermatol. 2011;164(3):637-644.
• 14. Segal LM, Stephenson R, Dawes M, Feldman P. Prevalence, diagnosis, and treatment of ankyloglossia: methodologic review. Can Fam Physician. 2007; 53 (6) :1027–33.
• 15. Melvin OG, Hunt KM, Jacobson ES. Hyaluronidase Treatment of Scleroderma-Induced Microstomia. JAMA Dermatology. American Medical Association; 2019; 155 (7) :857–9.
• 16. Krishan K, Garg A, Kanchan T, Machado M, Rao A. Enamel hypoplasia and its role in identification of individuals: A review of literature. Indian J Dent. 2015; 6 (2) :99.
• 17. Buschmann, M. M. (2010). Laminin-332-Mediated Proliferation Control: Mechanisms Regulating Formation of the Epithelium [Doctoral dissertation, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1275661166
• 18. Yuen WY, Pasmooij AMG, Stellingsma C, Jonkman MF. Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa. Acta Dermato-Venereologica. Acta Derm Venereol. 2012; 92 (6) :695–6.
• 19. Nusrat N, Altaf H C. Oral Manifestations of a Patient with Epidermolysis Bullosa. Biomed J Sci & Tech Res. 2017; 1 (6) :001-004.