Living with epidermolysis bullosa
Epidermolysis bullosa is a group of rare diseases that cause fragile, blistering skin. The blisters may appear in response to minor injury, even from heat, rubbing, scratching or adhesive tape. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or the stomach.
Most types of epidermolysis bullosa are inherited. The condition usually shows up in infancy or early childhood. Some people don’t develop signs and symptoms until adolescence or early adulthood.
Epidermolysis bullosa has no cure, though mild forms may improve with age. Treatment focuses on caring for blisters and preventing new ones.
Epidermolysis bullosa signs and symptoms vary depending on type. They include:
- Fragile skin that blisters easily, especially on the hands and feet
- Nails that are thick or don’t form
- Blisters inside the mouth and throat
- Thickened skin on the palms and soles of the feet
- Scalp blistering, scarring and hair loss (scarring alopecia)
- Thin-appearing skin (atrophic scarring)
- Tiny white skin bumps or pimples (milia)
- Dental problems, such as tooth decay from poorly formed enamel
- Difficulty swallowing (dysphagia)
- Itchy, painful skin
Epidermolysis bullosa blisters may not appear until a toddler first begins to walk or until an older child begins new physical activities that trigger more intense friction on the feet.
Epidermolysis bullosa is usually inherited. The disease gene may be passed on from one parent who has the disease (autosomal dominant inheritance). Or it may be passed on from both parents (autosomal recessive inheritance) or arise as a new mutation in the affected person that can be passed on.
The skin is made up of an outer layer (epidermis) and an underlying layer (dermis). The area where the layers meet is called the basement membrane. The various types of epidermolysis bullosa are largely defined by which layer the blisters form in.
The main types of epidermolysis bullosa are:
- Epidermolysis bullosa simplex. This is the most common form. It develops in the outer layer of skin and mainly affects the palms and the feet. The blisters usually heal without scarring.
- Junctional epidermolysis bullosa. This type may be severe, with blisters beginning in infancy. A baby with this condition may develop a hoarse-sounding cry from continual blistering and scarring of the vocal cords.
- Dystrophic epidermolysis bullosa. This type is related to a flaw in the gene that helps produce a type of collagen that provides strength to the pig-skinlike dermis layer of the skin. If this substance is missing or doesn’t function, the layers of the skin won’t join properly.