Cutis laxa, congenital form with pulmonary emphysema: an ultrastructural study

Abstract

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.