Epidermolysis bullosa
What is it?
Epidermolysis bullosa is a rare condition that causes fragile, blistering skin. The blisters may appear in response to minor injury, even from heat, rubbing or scratching. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or stomach.
Epidermolysis bullosa is inherited, and it usually shows up in infants or young children. Some people don't develop symptoms until they're teens or young adults.
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Signs & symptoms
Epidermolysis bullosa symptoms include:
* Fragile skin that blisters easily, especially on the palms and feet
* Nails that are thick or unformed
* Blisters inside the mouth and throat
* Scalp blistering and hair loss (scarring alopecia)
* Skin that looks thin
* Tiny pimple-like bumps (milia)
* Dental problems, such as tooth decay
* Difficulty swallowing
* Itchy, painful skin
Usually epidermolysis bullosa blisters are noticed during infancy. But it's not uncommon for them to appear when a toddler first begins to walk or when an older child begins new activities that cause more friction on the soles of the feet.
Diagnosis
The doctor may identify epidermolysis bullosa from the skin's appearance. You or your child may need tests to confirm the diagnosis. The tests may include:
* Biopsy for immunofluorescence mapping
* Genetic testing
* Prenatal testing
Treatment
Treatment for epidermolysis bullosa may first include lifestyle changes and home care. If these don't control symptoms, the doctor provider might suggest one or more of the following treatments:
* Medications- Medications can help control pain and itching. The doctor may also prescribe pills to fight infection (oral antibiotics) if there are signs of widespread infection, such as fever and weakness.
* Surgery- Surgical treatment may be needed. Options sometimes used for this condition include:
- Widening the esophagus
- Placing a feeding tube
- Grafting skin
- Restoring movement
* Rehabilitation therapy- Working with a rehabilitation specialist can help in learning to live with epidermolysis bullosa. Depending on the goals and how movement is limited, you might work with a physical therapist or an occupational therapist.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
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