Pathology of the elastic tissue of the skin in Costello syndrome. An image analysis study using mathematical...

Only nine cases of Costello syndrome have been described so far. No definitive pathologic abnormalities have been found on skin biopsies. We undertook a quantitative study of the elastic tissue of the skin in one case of Costello syndrome in order to obtain objective scores of area, fragmentation, branching and texture of the elastic tissue, comparing it to cutis laxa syndrome, Ehlers-Danlos syndrome and normal skin. The results showed an increasing fragmentation score and loss of anastomosing points in elastic tissue in Costello syndrome and cutis laxa syndrome in relation to normal skin. Thus, we conclude that image analysis revealed, in Costello syndrome, a state of disorder akin to that of cutis laxa syndrome. Therefore, both syndromes might have a common pathogenesis as far as elastic tissue is concerned. However, other cases should be analyzed to validate our conclusions on statistical grounds.