Introduction: Epidermolysis bullosa (EB) is a genetic skin disorder characterized by extreme skin fragility and recurrent blister formation, which significantly impacts the quality of life of patients afflicted by this disease. In Saudi Arabia, the diagnosis of EB relies heavily on thorough clinical assessments as well as genetic testing to confirm specific EB subtypes.

Methods: In this review, we conducted a systematic literature search focusing on genetic implications and management strategies for Epidermolysis bullosa within the Saudi Arabian population. We analyzed peer-reviewed studies and clinical guidelines to synthesize insights on prevalence, genetic mutations, and therapeutic approaches specific to this demographic.

Results: Although prenatal diagnosis is an option for families with a history of EB, its application is limited in Middle Eastern countries due to a variety of factors, including access to genetic services and cultural considerations. Current management strategies primarily focus on symptomatic relief. However, recent years have seen a significant increase in developing innovative therapeutics. For example, gene modification and stem cell therapy are currently under extensive investigation. These experimental approaches promise far more effective long-term solutions but are faced by numerous challenges.

Conclusion: Further research is necessary to improve diagnostic accuracy and treatment option, as well as to enhance the overall standard of care for patients with EB. This review delves into the genetic basis of EB and its management within the Saudi population, highlighting the critical need for genetic insights to facilitate accurate diagnosis, tailor targeted treatments, and provide effective counseling for patients and their families.