Expert Reviews in Molecular Medicine


Review Article

Molecular basis of inherited skin-blistering disorders, and therapeutic implications

Monique Aumailley a1c1 , Cristina Has a2 , Lucy Tunggal a1 and Leena Bruckner-Tuderman a2
a1 Center for Biochemistry, Medical Faculty, and Center for Molecular Medicine Cologne, University of Cologne, Germany.
a2 Department of Dermatology, University of Freiburg, Germany.

Article author query
aumailley m   [Google Scholar] 
has c   [Google Scholar] 
tunggal l   [Google Scholar] 
bruckner-tuderman l   [Google Scholar] 


Epidermolysis bullosa (EB) and associated skin-fragility syndromes are a group of inherited skin diseases characterised by trauma-induced blistering of the skin and mucous membranes. Mutations in at least 14 distinct genes encoding molecular components of the epidermis or the dermal–epidermal junction (DEJ) can cause blistering skin diseases that differ by clinical presentation and severity of the symptoms. Despite great advances in discerning the genetic basis of this group of diseases, the molecular pathways leading to symptoms are not yet fully understood. Unravelling these pathways by molecular analysis of the structure and in vitro assessment of functional properties of the human proteins involved, combined with genetic models in lower organisms, should pave the way for specific cures for inherited skin fragility.

c1 Corresponding author: Monique Aumailley, Institute for Biochemistry II, Joseph-Stelzmann-Str. 52, 50931 Cologne, Germany. Tel: +49 221 478 6991; Fax: +49 221 478 6977; E-mail: