Two cases of juvenile elastoma (nevus elasticus in disseminated tumors) were histologically and ultrastructurally investigated. The predominant components of this disseminated dysembryoplasia are abnormal elastic fibers. Both cases showed numerous large elastic fibers with an abundant background matrix. The elastic microfibrils were replaced by granular material. In one case, most of the abnormal elastic units remained isolated without forming elastic fibers.

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.

Clinical and morphologic findings in 3 sibs with congenital cutis laxa are presented. A severe urinary malformation in one affected infant is reported in detail. Elevated serum copper concentrations were observed in 2 of the sibs and in the healthy mother. However, the 64Cu uptake of fibroblast cells from tissue culture was not increased. Ultrastructural pathologic findings from skin biopsies have been studied and compared at birth and at age 2 years. The lack of junction between the 2 elastic fiber components was similar. Further evidence for clinical heterogeneity of this disease is stressed.

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