Clinical management of epidermolysis bullosa: case reports of five siblings

INTRODUCTION . Epidermolysis bullosa (EB) is a rare, inherited disorder characterized by mucocutaneous fragility, leading to blistering and ulceration following minimal trauma. Among its major subtypes, EB simplex (EBS) is the most common, typically presenting with milder clinical manifestations. AIM . This case series aims to document the clinical and radiographic findings of five siblings diagnosed with EBS, emphasizing the role of dental professionals in diagnosis, management, and improving patient quality of life. MATERIALS AND METHODS . Five siblings with no prior EB diagnosis underwent clinical, radiographic, and genetic assessments. Intraoral and extraoral examinations were conducted to evaluate mucosal involvement, dental anomalies, and associated systemic manifestations. Genetic analysis confirmed EBS Type 2 (KRT5 mutation) in all cases. RESULTS . None of the cases exhibited significant oral mucosal bullae or erosions. However, hyperkeratotic lesions, nail dystrophy, and perioral bullous formations were observed in all patients. Two siblings presented with bilateral sensorineural hearing loss. Panoramic radiographs revealed missing teeth, likely due to cariesrelated extractions, highlighting challenges in oral hygiene maintenance. Dental management focused on atraumatic treatment approaches, preventive care, and dietary counseling. CONCLUSIONS . Dentists play a crucial role in the early detection and multidisciplinary management of EB. Comprehensive oral assessments can aid in subtype identification and guide tailored treatment strategies. Patient education, preventive measures, and regular follow-ups are essential to improving long-term oral health outcomes and overall quality of life for individuals with EB.