Skin and Hair Disorders
Question #6751
33 days ago
55

Epidermolysis bullosa - #6751

Anonymously

I recently learned about epidermolysis bullosa (EB), and I was shocked by how severe it can be. What exactly is epidermolysis bullosa, and why does it cause such fragile skin? From what I read, EB is a rare genetic disorder that makes the skin extremely sensitive, leading to painful blisters and wounds from even minor friction or injury. But what causes it—does it happen because of a mutation in collagen or keratin genes? I also learned that there are different types of EB, including simplex, junctional, and dystrophic EB. How do doctors diagnose which type a patient has, and is there a cure? Another thing I wonder is how people with epidermolysis bullosa manage their condition. Since the skin is so delicate, do they need special bandages, medications, or pain relief to avoid infections and complications? For those who have epidermolysis bullosa, what has helped you manage symptoms and improve your quality of life?

Epidermolysis bullosa
Fragile skin
Genetic disorder
Skin blisters
Wound care
Dermatology
Rare diseases
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Doctors’ responses

Dr. Evgeny Arsentev
I am a highly qualified medical professional with over 15 years of experience in General Medicine. My expertise spans diagnosing and treating a wide range of conditions, providing evidence-based care, and mentoring junior doctors. I am dedicated to ensuring patient well-being through a combination of clinical skills and compassionate care.
32 days ago
Epidermolysis bullosa is indeed a rare genetic disorder that causes the skin to be extremely fragile. It results from mutations in the genes responsible for producing proteins that help hold the layers of skin together, like collagen or keratin. When these proteins are missing or defective, even minor friction or injury can cause painful blisters and wounds. There are several types of EB, including simplex, junctional, and dystrophic EB, and they are diagnosed based on a combination of clinical symptoms and genetic testing. Doctors may perform skin biopsies or genetic tests to identify the specific mutation causing the condition. Unfortunately, there is no cure for EB, but management focuses on preventing trauma to the skin and treating symptoms as they arise. For managing EB, patients often use special dressings to protect the skin, avoid friction, and reduce the risk of infections. Pain relief and antibiotics may also be necessary to manage pain and prevent complications. It's essential to consult with a dermatologist or a specialist to create a care plan tailored to the specific type of EB.
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