Junctional Epidermolysis Bullosa is a rare genetic disorder that affects the skin and mucous membranes. It is classified under the broader category of Epidermolysis Bullosa (EB), which encompasses a group of inherited skin conditions characterized by blistering and fragile skin.
Junctional Epidermolysis Bullosa specifically involves a defect in the proteins that form the anchoring structures known as hemidesmosomes, which connect the layers of the skin together. This defect leads to extreme skin fragility, blistering, and sores, even in response to minimal trauma or friction.
Symptoms of Junctional Epidermolysis Bullosa are typically present from birth or shortly after, and may include widespread blistering and erosion of the skin, particularly in areas prone to rubbing, such as the joints and mucous membranes. It can also affect the internal organs, resulting in complications such as difficulty swallowing, respiratory problems, and gastrointestinal issues.
Junctional Epidermolysis Bullosa is caused by mutations in specific genes that are responsible for producing the proteins involved in hemidesmosome formation. These mutations can be inherited in an autosomal recessive manner, meaning both parents must carry the faulty gene for their child to be affected.
Currently, there is no cure for Junctional Epidermolysis Bullosa, and treatment primarily focuses on managing the symptoms, preventing infection, and promoting wound healing. This often involves specialized wound care, the use of protective dressings, and a multidisciplinary approach involving dermatologists, geneticists, and other healthcare professionals to provide comprehensive care and support for patients and their families.
