ULTRASTRUCTURAL STUDIES ON DERMIS FROM PROLIDASE DEFICIENT SUBJECTS

Ultrastructural analyses were performed on clinically normal skin from forearm and/or femoral regions of five subjects, all excreting high levels of gly-pro dipeptides into the urine and exhibiting very low prolidase activity on hemolyzed erythrocytes. In both regions, the overall organization of the dermis was normal. Stereological analysis, however, showed that collagen volume density was reduced when compared to that of age-matched controls. Collagen fibrils did not show ultrastructural alterations, but they were distributed into a higher number of small bundles, and their diameters shifted towards lower values compared to age-matched controls. The elastin volume density was slightly reduced in the patients, especially in the femoral areas. In both forearm and femoral dermis, elastin fibers were significantly more numerous and smaller than in controls. Furthermore, elastin fibers were apparently normal in the forearm dermis, whereas appeared polymorphic and cribriform in the femoral skin. The results focused on the importance of efficient proline re-utilization for normal collagen and elastin synthesis and deposition. The differences between femoral and forearm skin regions from both clinical and ultrastructural points of view, may depend on mechanisms that regulate circulation and, possibly, on other factors which modulate the phenotypic expression of mesenchymal cells