Dystrophic EB (DEB)
In DEB, the skin comes away deeper down inside the skin, which means that, in simple terms, more of the skin tissue comes away and is lost. As the cells that replenish the skin are more prone to damage, scarring ie ‘dystrophy’ is a characteristic of DEB.
- DEB subtype RDEB (or “recessive dystrophic EB”) is recessively inherited, and is associated with a lack of a protein called collagen type VII. The most severe sub-subtype within RDEB is the severe generalized (previously known as the Hallopeau-Siemens) subtype. Babies born with severe generalized RDEB are born with widespread severe blistering. It is a chronic progressive disorder.
- The hands and feet may be affected by cocooning or ‘mitten’ deformity.
- Blistering in the mouth can cause a shrinking of the opening (microstomia), teeth start off normal but are prone to caries. Narrowing or strictures may form in the gullet; these may need to be surgically stretched/ dilated, or in some cases by-passed with tubes.
- Blistering can also affect the eyes.
- Anaemia is often seen in RDEB. It is complex and often refractory to treatment. It may be due to a combination of iron deficiency, chronic inflammation, bone marrow suppression and (mal)nutrition. Retardation of growth is largely due to the combination of the increased need for calories for healing, mechanical difficulties in eating and malabsorption problems in the small bowel.
- Milia due to damage to hair follicles in healed blister sites is a distinctive feature of DEB.
- Repeated cycles of damage and healing increases the risk of squamous cell carcinoma (SCC) ie skin cancer, which usually occurs in the second and third decades and is often very aggressive.
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