Heterogeneity of clinical features of pseudoxanthoma elasticum: analysis of thirteen cases in Oita Prefecture from a population of 1,240,000.

Thirteen cases among 16,260 patients seen at our department during the nine years from 1981 were diagnosed as pseudoxanthoma elasticum (PXE). The sex and age distributions were similar to those so far reported in the literature. There were two cases of the autosomal dominant type. One patient had skin lesions typical of PXE in association with Ehlers-Danlos syndrome. In two of three patients with cutis laxa-like lesions, eruptions of elastosis perforans serpiginosa were present. In three cases, we failed to detect deposition of calcium in typical skin lesions in either an early or a late stage by histochemical staining, in spite of the presence of slightly degenerated elastic fibers.