Author: Jane Widdowson et al, DEBRA New Zealand, February 2016.
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.
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.
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.
RDEB is due to homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1; 120120) on chromosome 3p21.
|Dominant generalised DEB||
|Generalised severe recessive (R) DEB
Previously known as Hallopeau-Siemens; and;
Generalised intermediate RDEB (previously Non-Hallopeau-Siemens)
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.
Squamous cell carcinoma in DEB is diagnosed by its clinical appearance and supported by biopsy.
See treatment of epidermolysis bullosa – general.
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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