Skin elastic fibers in Williams syndrome

The elastin gene is consistently deleted in Williams syndrome and as this p rotein represents the major component of the elastic fibers of the dermis, we sought to investigate skin elastic fibers in Williams syndrome as a key to unraveling extracellular matrix disorganization in this condition. Both morphometric parameters analyzed by using automated image analysis and immu nofluorescence labeling with monoclonal antibodies against elastin and fibr illin 1 showed a disorganized pre-elastic (oxytalan and elaunin) and mature elastic fibers in the dermis of 10 Williams syndrome patients compared wit h five healthy children and one patient with isolated supravalvular aortic stenosis, Skin biopsies in Williams syndrome patients provide a simple mean to elucidate extracellular matrix anomalies. Hopefully, this method could give clues to the understanding of the elastic network anomalies in this co ndition and even to the consequences of these latter on elasticity and resi lience of other tissues such as the arterial tree. (C) 1999 Wiley-Liss, Inc .