Histomorphometric parameters and susceptibility to neutrophil elastase degradation of skin elastic fibres from healthy individuals and patients with Marfan syndrome, Ehlers-Danlos type IV, and pseudoxanthoma elasticum

The morphometric parameters of mid-dermal elastic fibres from the skin of four patients with Marfan syndrome, four patients with Ehlers-Danlos syndrome type IV (EDS IV), and two patients with pseudoxanthoma elasticum (PXE) were determined, and compared with those of healthy individuals of a similar age range. The volume fraction occupied by elastic fibres was significantly reduced in Marfan patients compared with normal controls, and this was independent of age. In contrast, it was significantly increased in PXE patients, whereas the volume fraction occupied by skin elastic fibres varied within the EDS IV group. Dermal elastic fibres from patients with Marfan syndrome, EDS IV and PXE are hydrolysed by human neutrophil elastase in a qualitatively and quantitatively different fashion from those from healthy individuals. Marfan syndrome and EDS IV dermal elastic fibres were found to be more resistant to hydrolysis by human neutrophil elastase, but PXE elastic fibres were hydrolysed at a rate similar to elastic fibres from control skin.