Epidermolysis Bullosa - Medtick
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Epidermolysis Bullosa

What is it?

A skin condition where the person’s own immune system (antibodies) attacks its own body in this case the skin tissues or it is a genetically inherited condition and may be inherited in either a dominant or recessive manner.

Its normally present after birth or shortly after

There are many types:

Epidermolysis bullosa simplex

  • Most common.
  • Caused by defective proteins that would usually help bind the upper layers of the skin together.
  • Generally dominantly inherited and onset of disease activity is usually at or shortly after birth, although patients with localised EBS may not develop blistering until late childhood or even early adulthood.
Table 1. Subtypes of epidermolysis bullosa simplex (EBS)

Dystrophic epidermolysis bullosa

  • It affects the dermis, which is where the blistering occurs and may be dominantly or recessively inherited.
  • The blisters heal with scarring but can lead to:
    • Contraction of the joints;
    • Fusion of the fingers and toes;
    • Contraction of oral membranes
    • Narrowing of the oesophagus

Table 2. Subtypes of dystrophic epidermolysis bullosa (DEB)

Junctional epidermolysis bullosa

  • This condition affects the basement membrane, the structure that keeps the epidermis and dermis layers together.
  • The skin easily breaks apart, causing blistering.
  • It is a recessively inherited condition.
Table 3. Subtypes of junctional epidermolysis bullosa (JEB)

Kindler syndrome

  • The rarest type.
  • It is recessively inherited.
  • Symptoms may include increased sensitivity to light; patchy/discoloured skin; and/or hardening of the skin on the palms of the hands and soles of the feet (hyperkeratosis).
  • Sometimes the gums and teeth are affected as individuals get older.

Epidermolysis bullosa acquisita

The incidence of EB acquisita (EBA) is not well understood owing to it being the rarest type of EB.

  • EBA is not inherited and is classified as an autoimmune disease, whereby the body attacks its own healthy tissue.
  • It is thought that immune proteins mistakenly attack healthy collagen — the protein that binds the skin together. Symptoms are usually mild to moderate; blistering tends to mostly affect the hands, knees, knuckles, elbows and ankles.

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Injured areas include:

  • Sometimes there is mucosal involvement with blisters forming in the mouth, nose and eyes.
  • Hands
  • Elbows
  • Buttocks
  • Knees
  • Feet

Dermnet NZ

Diagnosis test

  • Skin biopsy for immunofluorescence
  • Transmission electron microscopy
  • Mutational analysis
  • Prenatal and preimplanataion testing (severe forms)

Cause

  • Mutation in any of at least 18 genes encoding the proteins in the epidermis, basement membrane or dermis causes poor integrity of the skin leading to fragility.
  • Crohn disease
  • Systemic lupus erythematosus
  • Amyloidosis
  • Multiple myeloma 
    • Rare type of blood cancer characterized by improper function and excessive production of plasma cells—a type of white blood cell—found in bone marrow.
    • The immune system is impacted due to the inefficiency of the plasma cells to produce healthy antibodies, which fight infection.
    • The overgrowth of plasma cells crowds other blood cells, reducing the number of healthy red and white blood cells which are involved in processes to give us energy and fight infection .
    • Common symptoms include leukaemia symptoms and anaemia symptoms in particular bone pain, usually experienced in the lower back and ribs and if not treated it can lead to weak bones, destruction of bones as well as a build up of abnormal antibodies called ‘M’Proteins which damage the kidneys  and  kidney stones due to increase production of uric acid as well as blood disorders symptoms.
  • Lung cancer
  • Lymphoma

Symptoms

  • Blistered skin?
  • Skin peeling?
  • Nail changes?
  • Skin areas prone to blistering due to pressure, trauma or excessive heat?
  • Thickening of skin and plaques on elbows, diaper, palms of hands and/or sole of feet?

Complications /Information to beware of/General tips:

This condition can lead to:

This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

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