Archives of Dermatological Research

, Volume 287, Issue 1, pp 16–22 | Cite as

Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene

  • Jouni Uitto
  • Angela M. Christiano
Original Paper


Significant progress has recently been made in understanding the molecular basis of heritable skin diseases, such as epidermolysis bullosa, a group of mechano-bullous genodermatoses. In particular, the dystrophic forms of epidermolysis bullosa have been shown to result from distinct mutations in the gene encoding type VII collagen, the major, if not the exclusive, component of the anchoring fibrils. These mutations result in deficient synthesis and/or altered assembly of the anchoring fibrils, thus compromising the integrity of the cutaneous basement membrane zone. The mutations in the type VII collagen gene have implications for understanding the structure-function relationships of the type VII collagen molecule, and also provide the basis for prenatal DNA-based diagnosis in families at risk for recurrence of the disease. Finally, understanding the genetic basis of dystrophic forms of EB sets the stage for gene therapy approaches for the treatment of these devastating skin diseases.

Key words

Epidermolysis bullosa Heritable skin diseases Gene mutations Type VII collagen gene mutations 


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Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Jouni Uitto
    • 1
    • 2
  • Angela M. Christiano
    • 1
    • 2
  1. 1.Departments of Dermatology, and Biochemistry and Molecular Biology, Jefferson Medical CollegeThomas Jefferson UniversityPhiladelphiaUSA
  2. 2.Section of Molecular Dermatology, Jefferson Institute of Molecular MedicineThomas Jefferson UniversityPhiladelphiaUSA

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