[Microvascular involvement in pseudoxanthoma elasticum. Capillaroscopic findings]. / Microangiopathie du pseudoxanthome élastique. Aspects capillaroscopiques.

ABSTRACT

OBJECTIVE: The aim of this study was to describe, for the first time, the capillary angio-architecture during pseudoxanthoma elasticum, a rare genetic disease related to mutations in the ABCC6 gene, of which the systemic calcifying involvement is responsible notably for very severe cardiovascular complications. Method Seven patients suffering from clinically and histologically documented confirmed pseudoxanthoma elasticum were examined with capillaroscopy, the absence of concomitant connective tIssue disease or diabetes having been checked beforehand. RESULTS: All the patients exhibited a microangiopathy, characterised by normal capillary density, frequent pericapillary oedema, excessively coiled fibres with a significantly increased number of minor dystrophies and, to varying degrees, a slowing down of capillary blood flow demonstrated by a sludge phenomenon. CONCLUSION: This descriptive study shows that a microangiopathy exists during pseudoxanthoma elasticum. However, the latter is not specific and a double blind controlled study is required to confirm these results. The discovery of genotype/phenotype correlations in this disease would provide a place for capillaroscopy in the diagnostic strategy in young patients or in the assessment of the cardiovascular involvement.