Epidermolysis bullosa (EB) defines a group of rare, inherited dermatoses that present with repeated blistering, erosions, and ulceration in response to seemingly disproportionate mechanical trauma. This occurs due to genetically-mediated skin fragility defects within the dermo-epidermal junction. An extensive phenotypic range is described. Some forms of epidermolysis bullosa place patients at an increased risk of infection, disabling deformities secondary to heavy scarring, and aggressive cutaneous malignancy, often causing early fatality. A broad range of extra-cutaneous manifestations can lead to significant morbidity and premature mortality. In the absence of curative treatment, the current focus of care prioritizes preventing and relieving symptoms and their complications. More recently, novel therapeutics, including topical gene therapies, have gained approval for increased symptomatic improvement of this otherwise intractable group of conditions. This activity outlines the presentation, pathophysiology, evaluation, and management of epidermolysis bullosa, and describes the vital role of the interdisciplinary team in treating extra-cutaneous complications. Areas of research are highlighted pertaining to preventative and abortive clinical strategies, emphasizing the use of gene replacement therapy.
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MOC types
FDA REMS
Qualifies for MIPS
Target Specialties
Relevant across 13 specialties.
Specialties served/covered
- Addiction Medicine
- Adolescent Medicine
- Advanced Heart Failure & Transplant Cardiology
- Allergy & Clinical Immunology
- Anatomic & Clinical Pathology
- Blood Banking & Transfusion Medicine
- Brain Injury Rehabilitation
- Breast Imaging
- Cardiac Anesthesia
- Cardiothoracic Surgery
- Cardiovascular Disease
- Chemical Pathology
- Clinical Cardiac Electrophysiology
- Clinical Informatics
- Critical Care Medicine
- Cytopathology
- Dermatopathology
- Diagnostic Radiology
- Endocrinology, Diabetes & Metabolism
- Facial Plastic & Reconstructive Surgery
- Foot & Ankle Surgery
- Forensic Pathology
- Gastroenterology
- General Internal Medicine
- General Operative Anesthesia
- General Otolaryngology
- General Pediatrics
- General Surgery
- Geriatric Medicine
- Head & Neck Surgery
- Hematology
- Hematopathology
- Hospice & Palliative Medicine
- Hospital Medicine
- Interventional Cardiology
- Interventional Radiology
- Laryngology
- Medical Leadership & Administration
- Medical Microbiology
- Medical Oncology
- Medical Toxicology
- Metabolic & Bariatric Surgery
- Molecular Genetic Pathology
- Musculoskeletal Oncology
- Neonatal-Perinatal Medicine
- Nephrology
- Neuro Anesthesia
- Neurocritical Care
- Neurodevelopmental Disabilities
- Neurological & Spinal Cord Injury Rehab
- Neuromuscular Medicine
- Neuropathology
- Neuroradiology
- Nuclear Medicine
- Obstetric Anesthesia
- Obstetrics & Gynecology
- Ophthalmology
- Orthopaedic Sports Medicine
- Orthopaedic Surgery
- Orthopaedic Trauma
- Otology & Neurotology
- Pain Medicine
- Patient Safety & Quality Improvement
- Pediatric Anesthesia
- Pediatric Cardiology
- Pediatric Critical Care Medicine
- Pediatric Emergency Medicine
- Pediatric Gastroenterology
- Pediatric Hematology-Oncology
- Pediatric Infectious Diseases
- Pediatric Neurology
- Pediatric Orthopaedic Surgery
- Pediatric Otolaryngology
- Pediatric Pathology
- Pediatric Radiology
- Pediatric Rehabilitation Medicine
- Pediatric Surgery
- Pediatric Transplant Hepatology
- Physical Medicine & Rehabilitation
- Practice Management & Ethics
- Primary Care Sports Medicine
- Pulmonary Disease
- Regional Anesthesia & Acute Pain
- Rheumatology
- Rhinology
- Shoulder & Elbow Surgery
- Sleep Medicine
- Spine Surgery
- Surgery of the Hand & Upper Extremity
- Surgical Critical Care
- Surgical Oncology
- Thoracic Anesthesia
- Thoracic Surgery
- Transplant Hepatology
- Transplant Surgery
- Trauma Surgery
- Urology
- Vascular Neurology
- Vascular Surgery
- Anesthesiology
- Cardio-Vascular
- Cross-Specialty
- Emergency & Critical Care
- ENT & Head Neck
- GI & Liver
- Infectious Disease
- Internal Medicine
- Medical Subspecialties
- Neurology
- Ob/Gyn
- Oncology & Hematology
- Orthopedics
- Pain & Palliative
- Pathology & Lab
- Pediatrics
- Primary care
- Radiology
- Rehabilitation
- Sports & Exercise Medicine
- Surgery
- Urology
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