Morphometric analysis of elastic skin fibres from patients with: cutis laxa, anetoderma, pseudoxanthoma elasticum, and Buschke-Ollendorff and Williams-Beuren syndromes

Computed morphometric analysis of elastic skin fibres in patients with cutis laxa, anetoderma, Williams–Beuren syndrome, pseudoxanthoma elasticum (PXE), and Buschke–Ollendorff syndrome, all clinically ascertained, was performed and compared with data obtained from healthy individuals of the same age. The diameters, area fractions (AA%) and volume fractions (VV%) occupied by pre‐elastic fibres and dermal elastic fibres were determined. Irrespective of age the diameter of dermal elastic fibres followed a Gaussian distribution for all groups studied. These diameters were taken into consideration for VV% determinations. Compared with data from skin of healthy subjects of similar age range, VV% of pre‐elastic fibres was significantly decreased in patients with cutis laxa, anetoderma, Williams–Beuren syndrome, and PXE and undetectable in Buschke–Ollendorff patients. VV% of dermal elastic fibres was four‐ to fivefold increased in Buschke–Ollendorff syndrome, two‐ to threefold increased in PXE skin, four‐ to fivefold decreased in cutis laxa and anetoderma skin and about twofold decreased in Williams–Beuren skin. The diameter of oxytalan fibres was decreased in anetoderma and Williams–Beuren syndrome while oxytalan fibre diameter was unchanged in PXE and cutis laxa. The diameter of dermal elastic fibres was increased in PXE and Buschke–Ollendorff syndrome, but was decreased in anetoderma and Williams–Beuren syndrome and unchanged in cutis laxa. We demonstrated that cutis laxa, anetoderma, Williams–Beuren syndrome, PXE, and Buschke–Ollendorff syndrome could be easily differentiated by morphometric analysis of elastic skin fibres. Thus we propose that morphometric analyses together with skin biopsies are a valuable tool for distinguishing between inherited and/or acquired skin diseases known to display alterations of elastic fibres.