About epidermolysis bullosa

What is epidermolysis bullosa?

Epidermolysis bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah) 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.

What are the symptoms for epidermolysis bullosa?

Skin and nail thickening symptom was found in the epidermolysis bullosa condition

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.

When to see a doctor

Contact your doctor if you or your child develops blisters, particularly if you don't know the reason for them. For infants, severe Blistering can be life-threatening.

Seek immediate medical care if you or your child:

  • Has problems swallowing
  • Has problems breathing
  • Shows signs of infection, such as warm, red, painful or swollen skin, pus, or a foul odor from a sore, and Fever or chills

What are the causes for epidermolysis bullosa?

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.

What are the treatments for epidermolysis bullosa?

If lifestyle changes and home care don't control the signs and symptoms of epidermolysis bullosa, treatments may include medications, surgery and rehabilitation. The condition often progresses despite treatment, sometimes causing serious complications and death.


Medications can help control pain and itching and treat complications such as infection in the bloodstream (sepsis). The doctor may prescribe oral antibiotics if the wounds show signs of widespread infection (fever, weakness, swollen lymph glands).


Surgical treatment may be needed. Options sometimes used for this condition include:

  • Widening the esophagus. Blistering and scarring of the esophagus may lead to esophageal narrowing, making eating difficult. Surgical dilation of the esophagus can relieve this and make it easier for food to travel from the mouth to the stomach. Risks include esophageal perforation.
  • Placing a feeding tube. To improve nutrition and help with weight gain, a feeding tube (gastrostomy tube) may be implanted to deliver food directly to the stomach.
  • Grafting skin. If scarring has affected the function of the hand, the doctor may suggest a skin graft.
  • Restoring mobility. Repeated blistering and scarring can cause fusing of the fingers or toes or abnormal bends in the joints (contractures). The doctor may recommend surgery to correct these conditions, particularly if they interfere with normal motion.

Rehabilitation therapy

Working with a rehabilitation specialist (physical therapist, occupational therapist) can help ease the limitations on motion caused by scarring and contractures.

Potential future treatments

Researchers are studying better ways to treat and relieve the symptoms of epidermolysis bullosa, including:

  • Gene therapy
  • Bone marrow (stem cell) transplantation
  • Protein replacement therapies
  • Cell-based therapies

What are the risk factors for epidermolysis bullosa?

Having a family history of epidermolysis bullosa is the major risk factor for developing the disorder.

Is there a cure/medications for epidermolysis bullosa?

If lifestyle adjustments and personal care do not manage the symptoms and signs of epidermolysis bullosa, medicines, surgery, and rehabilitation may be used. Despite therapy, the illness frequently worsens, resulting in major complications and death.


  • Medications can help manage pain and itching, as well as address problems including bloodstream infection (sepsis). If the wounds show evidence of widespread infection, the treatment includes oral antibiotics for fever, weakness, and swollen lymph glands.
  • Surgery: Surgical intervention may be required. Some treatments for this ailment include:
  • Esophageal enlargement. Esophageal blistering and scarring can cause esophageal constriction, making eating difficult. Surgical esophageal dilatation can alleviate this and make it simpler for food to pass from the esophagus into the stomach. One risk is esophageal perforation.
  • Inserting a feeding tube. A gastrostomy tube may be placed to supply food directly to the tummy to increase nutrition and aid with weight gain.
  • Skin grafting If scarring has impaired hand function, the doctor may recommend a skin graft.
  • Restoring mobility. Repeated blistering and scarring might result in a fusing of the fingers or toes or aberrant joint bending (contractures). If these disorders impede normal motion, the doctor may propose surgery to repair them.
  • Therapy for Rehabilitation: Engaging with a rehabilitation expert can help to alleviate the motion restrictions produced by scarring and contractures.

Future treatment options
Researchers are looking for improved ways to cure and alleviate the symptoms of epidermolysis bullosa, such as:

  • Therapy with genes
  • Transplantation of bone marrow (stem cells)
  • Protein substitution therapy
  • Cellular treatments

Blister-prone skin,Blisters on the palms and bottoms of the feet,Skin and nail thickening
Swallowing and breathing difficulties

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