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Epidermolysis bullosa (EB)
Definition:
- Group of genetic skin disorders with mutations in genes that code for structural proteins of the dermo-epidermal basement membrane zone.
- To date defects in 10 genes are known for different forms of EB.
- The incidence of all forms of Epidermolysis bullosa is based only on estimates; the exact prevalence is not known. According to estimates, it occurs in 1 in 50.000 to 1 in 100.000 births.
- Minimal trauma leads to blistering of the skin and the mucous membranes near the skin.
- Classification into 3 main forms, according to the level of blister formation in the skin:
1. EB simplex (EBS) with blister formation in the basal keratinocyte layer.
2. Junctional EB (JEB) with blister formation along the basement membrane.
3. Dystrophic EB (DEB) with blister formation underneath the basement membrane.
The main forms are subdivided into subtypes with different inheritance patterns,
common sites of occurrence and different accompanying symptoms.
Special form:
4. Kindler Syndrom
Kindler syndrome (KS, MIM173650) is a rare autosomal recessive genodermatosis first described in 1954. Since then, around 100 cases were published, the clinical phenotype could be distinguished from other related diseases. The clinical features resemble those seen in different epidermolysis bullosa types. By homozygosity mapping, the gene responsible KS was localized on the short arm of chromosome 20, and mutations in a new gene KIND1 were identified in 4 families. KIND1 encodes Kindlin-1, a focal contact protein.
© 2006 Netzwerk Epidermolysis bullosa