Thelansis

 Epidermolysis bullosa is an infrequent, often severe genetic disorder characterized by skin, mucosal, or organ fragility, resulting in blistering or erosions, even from minor injuries. Severe forms of the condition can lead to skin issues like blistering, open wounds, and scarring and affect other body systems, such as the gastrointestinal, cardiovascular, genitourinary, ocular, and oral systems, and raise the risk of early mortality. Various gene mutations affecting proteins responsible for skin integrity encompass keratins (KRT5, KRT14), laminin-332 (LAMA3, LAMB3, LAMC2), dystonin epithelial isoform (DST), and collagen types VII and XVII (COL7A1, COL17A1). These mutations yield different disease types and subtypes categorized by the location of skin cleavage, each with distinct presentations. The primary forms include epidermolysis bullosa simplex (making up about 70% of cases), dystrophic epidermolysis bullosa (25%), junctional epidermolysis bullosa (5%), and Kindler syndrome. ...