The Saudi National Policy and Protocol for Epidermolysis Bullosa

Ashjan Alheggi,1,* Amal Alhashem,2,3,* Hind Mohammad H Alshihry,4,* Sultan Al-khenaizan,5,* Fawwaz Freih Alshammrie,6,* Mariam M AlEissa,7– 10,* Hajer Y Almudaiheem,11,* Nancy Shehata,12,* Naemah Alshingetti,13,* Ali Husein Almudeer,14,* Ibtesam Fawaz Alshammari,15,* Mohammed Faraj Alsefri,16,* Ahmed Al-jedai,11,17,* Maysa Tariq Eshmawi1,12,* 1Department of Dermatology, College of Medicine, Imam Mohammad Ibn Saud Islamic University (IMSIU), Riyadh, Saudi Arabia; 2Department of Genetic and Metabolic, King Fahad Specialist Hospital, Dammam, Saudi Arabia; 3Department of Anatomy, College of Medicine, Al-Faisal University, Riyadh, Saudi Arabia; 4Department of Dermatology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia; 5Department of Dermatology, King Abdulaziz Medical City, Riyadh, Saudi Arabia; 6Department of Dermatology, University of Hail, Hail, Saudi Arabia; 7Department of Medicine, College of Medicine, Al-Faisal University, Riyadh, Saudi Arabia; 8Department of Research, King Khaled Eye Specialist Hospital (KKESH) Research Centre, Riyadh, Saudi Arabia; 9Department of Molecular Genetics, Public Health Lab, Public Health Authority, Riyadh, Saudi Arabia; 10Computational Sciences Department at the Centre for Genomic Medicine (CGM), King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia; 11The Saudi Society of Clinical Pharmacy, Riyadh, Saudi Arabia; 12Department of Dermatology, King Abdullah Medical Complex, Jeddah, Saudi Arabia; 13Obstetrics & Gynecology Department, King Salman Hospital, Riyadh First Cluster, Riyadh, Saudi Arabia; 14Department of Pediatric, King Saud University Medical City, Riyadh, Saudi Arabia; 15Obstetrics & Gynecology Department, REI&MIS, King Saud Medical City, Cluster One, Riyadh, Saudi Arabia; 16Hospital Affairs, Ministry of Health, Riyadh, Saudi Arabia; 17Colleges of Medicine and Pharmacy, Alfaisal University, Riyadh, Saudi Arabia*These authors contributed equally to this workCorrespondence: Maysa Tariq Eshmawi, Department of Dermatology, College of Medicine, Imam Mohammad Ibn Saud Islamic University, Riyadh, Saudi Arabia, Tel +966 55 535 2819, Email [email protected]: This protocol’s objective is to offer evidence-based suggestions for the identification, treatment, and management of epidermolysis bullosa (EB) in Saudi Arabia. EB is a rare genetic condition that results in blistering and skin fragility. Depending on the subtype, it can produce a variety of consequences. The four primary kinds of EB are EB Simplex, Junctional EB, Dystrophic EB, and Kindler EB. This guideline provides a thorough understanding of EB and describes diagnostic techniques including genetic testing and immunofluorescence mapping. The significance of an interdisciplinary team (IDT) approach in treating severe instances is also covered, guaranteeing integrated treatment across wound care, nutrition, dermatology, genetics, and psychosocial support. In addition, the guideline discusses the role of new treatments for EB, such as Beremagene geperpavec (B-VEC), and stresses the necessity of creating a National Saudi EB Registry to maximize patient care and guarantee fair access to treatment. The guideline also emphasizes the importance of genetic counseling for prenatal diagnosis, family planning, and parental screening, as well as the need to address the psychological difficulties that people living with EB and their families face. In summary, this guideline offers a structured framework for physicians and healthcare providers to guarantee the best possible care for people living with EB in Saudi Arabia, with the goal of improving clinical outcomes, quality of life, and long-term management of the disease.Keywords: epidermolysis bullosa, management, interdisciplinary care, genetic counseling, psychosocial considerations