ULTRASTRUCTURAL ANALYSIS OF SKIN AND AORTA FROM A PATIENT WITH MENKESDISEASE

Ultrastructural studies of the skin and aorta of a patient with Menkes disease, an X-linked recessive disorder of copper metabolism, are des cribed. Dermal thickness was normal, while dermal collagen fibrils exh ibited a heterogeneous size range, with a mean diameter smaller than n ormal. Long-spacing collagen was often observed near fibroblasts, the plasma membranes of which were decorated by aggregates of interwoven f ilaments. Dermal elastin fibers were scarce and consisted of thin stra nds of amorphous elastin associated with numerous microfibrils. In the aorta, the amount of collagen was normal, although the fibrils displa yed a broader range of diameters than normal, with a slightly smaller mean. Elastin fibers showed considerable disruption, appearing fragmen ted and wider than normal, and displaying irregular contours. The incl usion of cationic dyes during tissue fixation gave rise to numerous el ectron-dense precipitates within the elastin fibers, suggesting the pr esence there of glycosaminoglycans or proteoglycans, among which unsul fated and sulfated chondroitins were demonstrated by immunoelectron mi croscopy to be prominent. Heparan sulfate, observed to be a constituen t of normal elastin fibers, was much reduced in amount. Elastin was al so found associated with glycosaminoglycans in the soluble matrix of t he aortic wall. (C) 1994 Academic Press, Inc.