Dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa is characterised by subepidermal blistering below the dermoepidermal junction.
Mutations in the type VII collagen gene which results in disordered anchoring fibrils at the dermal-epidermal junction has been recognized as the cause.
The condition may be
- 1. autosomal dominant - a milder form of the disease
- 2. autosomal recessive - causes severe symptoms (1)
Scarring is common; permanent nail loss is common. Extracutaneous manifestations can also be seen in dystrophic epidermolysis bullosa which are more common in patients with the recessive form of the disease.
Most frequent sites of involvement include:
- teeth - Gingival blisters or erosion, enamel hypoplasia, dental caries,
- gastrointestinal tract - dysphagia, oesophageal stricture or stenosis, pyloric stenosis, anal stricture, chronic constipation and fecal impaction.
- upper respiratory tract - chronic hoarseness, inspiratory stridor and laryngeal stenosis or obstruction.
- genitourinary tract
- eyes - chronic hoarseness, inspiratory stridor and laryngeal stenosis or obstruction
- cardiovascular system - dilated cardiomyopathy
- anaemia and growth retardation (1)