Dystrophic epidermolysis bullosa

Author: Jane Widdowson et al, DEBRA New Zealand, February 2016.

What is epidermolysis bullosa?

Epidermolysis bullosa (EB) is a group of inherited diseases that are characterised by blistering lesions on the skin and mucous membranes. These may occur anywhere on the body but most commonly appear at sites of friction and minor trauma such as the feet and hands. In some subtypes, blisters may also occur on internal organs, such as the oesophagus, stomach and respiratory tract, without any apparent friction.

What is dystrophic epidermolysis bullosa?

In dystrophic epidermolysis bullosa simplex (DEB), the site of blister formation is the lamina densa within the basement membrane zone and the upper dermis. It causes generalised blistering of the skin and internal mucous membranes and leads to scar formation.

Who gets dystrophic epidermolysis bullosa?

DEB is a rare inherited disease . There are two main subtypes of DEB — one is autosomal dominant and one is autosomal recessive. The latter is the more severe form.

What are the clinical features of dystrophic epidermolysis bullosa?

DEB Subtypes Features
Dominant generalised DEB
  • Generalised blistering present at birth
  • Blistering becomes localised to hands, feet, elbow or knees as child grows older and in response to friction
  • Small white spots called milia are often present at healed but scarred sites
  • Bart syndrome: aplasia cutis, lesions in the mouth, and abnormal nails due to abnormal type 7 collagen in anchoring fibrils
  • May also get blistering of the oesophagus
Generalised severe recessive (R) DEB
Previously known as Hallopeau-Siemens; and;
Generalised intermediate RDEB (previously Non-Hallopeau-Siemens)
  • May present with severe blistering (generalised severe RDEB) or mild disease (generalised intermediate RDEB)
  • Generalised severe blistering is more common and involves large areas of skin and mucous membranes
  • Blisters heal but with scarring and deformity causing limited movement as fingers and toes may be fused together (mitten hands)
  • Complications such as infection, malnutrition and dehydration may cause death in infancy
  • Those that survive are at great risk of developing squamous cell carcinoma (SCC) within chronic EB wounds. SCC look and behave differently in EB from in unaffected individuals, thus a low threshold for review by a specialist dermatologist should be considered.

How is dystrophic epidermolysis bullosa diagnosed?

In the dominant subtypes of EB, where an informative family tree is known, it is often acceptable for a clinical diagnosis (based on the presenting signs) to be made by a specialist dermatologist.

What is the treatment of dystrophic epidermolysis bullosa?

See treatment of epidermolysis bullosa – general.

What is the outcome for patients with dystrophic epidermolysis bullosa?

Life expectancy is unaffected in dominant DEB (DDEB). In recessive DEB (RDEB), life expectancy has now significantly improved due to appropriate management and interventions related to EB complications. These include the early detection and treatment of squamous cell carcinoma (SCC).

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