Cutis laxa, congenital form with pulmonary emphysema: an ultrastructural study.
A case of a congenital, autosomal recessive form of generalized cutis laxa with pulmonary emphysema was histologically and ultrastructurally investigated. The cutaneous abnormalities observed seem to result mainly from a developmental defect of the elastic network which is absent in the papillary dermis and blocked at an early state of its formation in the upper and mid-reticular dermis. The union between the two elastic fibre components appears to be defective; the vectorial synthesis is non-existent and the elastic fibres remain in the state of dystrophic elastic units. Evidence is given to suggest that cutis laxa, presenting several described structural patterns, should be considered as a syndrome.
D002675:Child, Preschool; D003483:Cutis Laxa / Q000150:complications / Q000151:congenital* / Q000473:pathology; D004547:Elastic Tissue / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D011656:Pulmonary Emphysema / Q000150:complications*; D012867:Skin / Q000473:pathology* / Q000648:ultrastructure