Epidermolysis bullosa

Epidermolysis bullosa encompasses a heterogeneous group of rare, predominantly inherited mechanobullous disorders defined by marked epithelial fragility of the skin and mucous membranes Pathophysiologically, genetic mutations disrupt structural adhesion proteins within the epidermis or basement membrane zone, impairing tolerance to mechanical shearing forces This structural defect leads to separation of tissue layers, resulting in painful blister formation, erosions, and chronic ulcerations prov...

Epidermolysis bullosa encompasses a heterogeneous group of rare, predominantly inherited mechanobullous disorders defined by marked epithelial fragility of the skin and mucous membranes Pathophysiologically, genetic mutations disrupt structural adhesion proteins within the epidermis or basement membrane zone, impairing tolerance to mechanical shearing forces Although clinical severity ranges widely, presentation typically manifests in neonates or infants and can progress to severe complications,...

This structural defect leads to separation of tissue layers, resulting in painful blister formation, erosions, and chronic ulcerations provoked by minimal friction or minor trauma

Although clinical severity ranges widely, presentation typically manifests in neonates or infants and can progress to severe complications, including extensive scarring, joint contractures, esophageal strictures, chronic infections, and an elevated risk of aggressive squamous cell carcinoma