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

Abstract

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.

Multisystem study of 20 older adults with Williams syndrome

“…Presumably these mild skin changes can be attributed to the ultrastructural changes in elastin. Abnormal elastin fibers with reduced amounts of amorphous elastin and decreased elastic fiber volume and diameter have been demonstrated on microscopic analysis of skin in persons with WS [Urban et al, 2000;Ghomrasseni et al, 2001]. We found that the majority of adults had premature graying of the hair starting as early as 16 years old, a finding which has been reported previously [Morris et al, 1988].…”

A quantitative approach to histopathological dissection of elastin-related disorders using multiphoton microscopy

“…28 Additional information can be gained through fluorescence lifetime imaging microscopy, whereby different cellular structures with similar emission spectra but different fluorescence decay rates can be distinguished, thus providing a reflection of the molecular environment of the fluorescent molecule, e.g. 29,30 Here, we propose an alternative measure whereby quantification of elastin provides additional information about the morphology and the absolute content of elastin in the skin. 15 Although histological studies have measured the relative content of elastin in rare elastin disorders, as well as in photoaged and chronologically aged skin, no study has attempted to quantify with MPM the absolute elastin content in the setting of solar elastosis.…”

Papular Elastorrhexis

“…In addition, there is no fragmentation of the fibers. Computed morphometric analysis showed that volume fractions of dermal elastic fibers were four- to fivefold increased in Buschke-Ollendorff syndrome [9]. The absence of any radiologic bone abnormalities in our patients and the histologic evidence of decreased and altered elastic fibers in the skin lesions together with a negative family history in all patients make the diagnosis of Buschke-Ollendorff syndrome unlikely.…”