Epidermolysis bullosa accompanied by amelogenesis imperfecta: A report of three cases and literature review

Abstract

Introduction: Epidermolysis Bullosa (EB) is a group of genetic disorders characterized by skin and mucosal fragility. Similarly, Amelogenesis Imperfecta (AI) is a genetic condition that affects the development of dental enamel, leading to structural anomalies. Specific gene mutations, such as those affecting COL17A1, are known to cause both conditions, notably in patients with Junctional EB. This study explores the clinical presentations of three patients diagnosed with both AI and EB, with two cases confirmed to have COL17A1 mutations, linking the genetic mutation to both enamel defects and EBs.

Case Reports: The clinical findings from three patients are reported. Two of the cases were diagnosed with Junctional EB, with genetic testing confirming COL17A1 mutations, which correlated with the presentation of hypoplastic enamel and pitting. All patients exhibited gingivitis and oral mucosal fragility, which posed challenges in maintaining oral hygiene.

Discussion: Maintaining oral hygiene in patients with EB is particularly challenging due to the fragility of their oral mucosa. These challenges are exacerbated by the low socioeconomic status of the patients, limiting access to proper oral care tools. The study explores oral management strategies, including the use of soft toothbrushes, sucralfate for ulcer management, and the importance of a multidisciplinary approach. Regular dental check-ups and early intervention are emphasized as essential for improving patient outcomes and quality of life.

Conclusion: It is crucial for dental practitioners to identify signs of AI in EB patients and to ensure timely referrals and consultations. Furthermore, EB patients should be referred to dental professionals early to prevent oral complications. A multidisciplinary approach is vital for addressing the complex needs of these patients effectively.