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- Blisters develop either in a localized or generalized fashion.
- Scarring and presence of milia are common features
- Typically nail dystrophy and nail loss are present, hair often normal
- Involvement of the mucous membranes is common, the clinical symptoms variable
- There is an increased risk for the development of squameous cell carcinomas in the more affected patients during the clinical progression (usually from early adolescence
- The clinical severity varies according to subtype: from mild forms of dominant DEB to the recessive severe generalized DEB (previously called DEB-Hallopeau-Siemens), which can lead to invalidity with reduced life expectancy.
- Immunofluorescence mapping: the lamina densa markers are found at the top of the blister. The staining with collagen VII may be negative, reduced or normal.
- Electron microscopy: the separation takes place underneath the lamina densa, the anchoring fibrils may be absent, rudimentary or reduced.
- Genetics: autosomal dominant or recessive inheritance. Mutations in the collagen VII gene (COL7A1) have been found in all DEB subtypes.
Subtypes
- DEB dominant generalized
- DEB dominant localized
- DEB dominant pretibial / pruriginosa
- DEB dominant nails only
- DEB recessive severe generalized (previously called DEB Hallopeau-Siemens)
- DEB recessive other (previously classified as DEB non-Hallopeau-Siemens)
- DEB recessive pretibial / pruriginosa
© 2006 Netzwerk Epidermolysis bullosa