The molecular genetics of the Ehlers-Danlos syndrome

The identification and investigation of many inherited disorders has an imp ortance out of proportion to their frequency because of the insights they p rovide into physiological, pathological and molecular mechanisms. This is t rue of the heritable disorders of connective tissue which are a diverse gro up of conditions involving cutaneous, musculoskeletal, cardiovascular, ocul ar, gastrointestinal and pulmonary systems. The Ehlers-Danlos syndrome (EDS ), which shows great clinical variability and genetic heterogeneity, is one example which has particular relevance to the dermatologist and is the foc us of this review.