Epidermolysis bullosa simplex

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.

What is epidermolysis bullosa simplex?

In epidermolysis bullosa simplex (EBS), the site of blister formation within skin is the epidermis, ie the uppermost layer of skin cells (keratinocytes). There are localised and generalised forms of EBS.

Who gets epidermolysis bullosa simplex?

EBS is a rare inherited disease. Most subtypes of EBS are of dominant inheritance. This means they are passed down from an affected parent to half of his or her children. EBS occurs equally in males and females.

What are the clinical features of epidermolysis bullosa simplex?

The table below describes the features of the differing subtypes of EBS.

EBS Subtypes Features
Localised EBS
Previously known as Weber-Cockayne
  • Most common and localised form of EBS
  • Blisters develop on hands and feet in response to friction
  • Usually presents in infancy as child is starting to crawl and walk
  • Wounds heal without scarring but there may be thickening of the skin on soles and palms
Generalised EBS
Previously known as Koebner
  • Generalised EBS where blisters develop all over the body but commonly on hands, feet and extremities
  • Presents at birth or early in infancy
  • May be mild involvement of mucous membranes and nails
  • Thickening of skin and plaques develop on palms and soles
Generalised severe EBS
Previously known as Dowling Meara
  • Generalised and severe form of EBS
  • Present at birth with blistering on the face, trunk and limbs
  • Thickened skin may cause calluses that limit or interfere with joint movement
  • Nails often affected
  • May involve other organs including inside the mouth, gastrointestinal and respiratory tract
  • Widespread involvement may cause death in infancy but usually there is significant improvement with age

How is epidermolysis bullosa simplex diagnosed?

In the dominant subtypes of EB, where an informative family tree is known, it is often acceptable for a clinical diagnosis to be made by a specialist dermatologist based on the presenting signs. Diagnostic tests are also available in some countries and include immunofluorescence antigen mapping (IFM) and/or transmission electron microscopy (EM) of a skin biopsy of a newly induced blister.

Mutational analysis (blood testing of genes) is also available in some countries

What is the treatment of epidermolysis bullosa simplex?

See treatment of epidermolysis bullosa – general.

What is the outcome for people with epidermolysis bullosa simplex?

People with EBS learn to manage their condition very well on their own. Even those with severe generalised EBS subtype, (having survived infancy) will have normal life expectancy.

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