A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin.
A familial cutis laxa syndrome is reported in a mother and son. In addition, the son had Klippel-Tranaunay-Weber syndrome, which may be related to his underlying disorder. Ultrastructural examination of skin revealed previously recognized abnormalities of elastic tissue. In addition, abnormalities in collagen structure are demonstrated. The underlying defect in this disorder appears to result in abnormalities in both elastic tissue and collagen structure.
D000293:Adolescent; D000328:Adult; D002648:Child; D003238:Connective Tissue / Q000648:ultrastructure*; D003483:Cutis Laxa / Q000235:genetics* / Q000473:pathology*; D004547:Elastic Tissue / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008297:Male; D012867:Skin / Q000648:ultrastructure*