Investigation of the genetical basis of autosomal recessive Cutis Laxa [Elektronische Ressource] / von Aikaterini Dimopoulou

Aus dem Institut für Medizinische Genetikder Medizinischen Fakultät Charité – Universitätsmedizin Berlin DISSERTATIONInvestigation of the genetical basis of autosomal recessive Cutis Laxazur Erlangung des akademischen Grades Doctor medicinae (Dr. med.)vorgelegt der Medizinischen Fakultät Charité – Universitätsmedizin Berlinvon Aikaterini Dimopoulouaus ThessalonikiGutachter/in: 1. Prof. Dr. med. S. Mundlos2. Prof. Dr. med. Dr. h. c. T. Krieg3. Prof. Dr. med. B. ZabelDatum der Promotion: 19 November 2010For my family and for all my good friends…..Contents1 Introduction ....................................................................................................................... 11.1 Lax skin - definition........................................................................................................... 11.2 Skin structure..................................................................................................................... 11.2.1 Skin layers...............................................................................................................11.2.2 The elastic fibre.......................................................................................................21.3 Chronological ageing......................................................................................................... 41.3.1 Ageing of skin41.4 Molecular causes of ageing ..................................................................