Dystrophic Epidermolysis Bullosa (DEB) is a rare genetic disorder that affects the skin and, in some cases, other parts of the body. It belongs to a group of conditions known as epidermolysis bullosa (EB), characterized by extreme skin fragility and blistering.
DEB is caused by mutations in the COL7A1 gene, which provides instructions for making a protein called type VII collagen. This protein is essential for anchoring the epidermis (the outermost layer of the skin) to the underlying dermis. In individuals with DEB, the lack or abnormality of type VII collagen results in weak anchoring fibrils, causing the skin layers to separate easily upon mild friction or trauma. This leads to the formation of blisters, erosions, and chronic wounds on the skin.
The severity of DEB can vary widely, ranging from mild to severe forms. The most severe cases often involve blistering and scarring not only in the skin but also in mucous membranes, such as those lining the digestive tract. Possible complications of DEB include skin infections, anemia, growth delays, malnutrition, and an increased risk of skin cancer.
DEB is typically diagnosed through a combination of clinical examination, family history assessment, skin biopsies, and genetic testing. Treatment mainly focuses on wound care, infection prevention, nutritional support, and managing associated complications. There is currently no cure for DEB, and treatment strategies aim to improve the patient's quality of life and minimize symptoms.
Due to the chronic and debilitating nature of DEB, a multidisciplinary approach involving dermatologists, geneticists, wound specialists, nutritionists, and other healthcare professionals is essential for the comprehensive management of this condition.
