[Clinical aspects and genetics of pseudoxanthoma elasticum].
Eighteen cases of Pseudoxantoma elasticum (PXE) were analysed using clinical and genetic criteria. We observed great intra- and interfamiliar variations in the manifestations of the disease as well as mono-, bi- and trisymptomatic cases (skin + eyes + vessels). We lack reliable indications for the existence of more than one recessive type of PXE and hence for heterogeneity. In family 9, PXE was inherited in an autosomal-dominant mode, and the discrete symptoms were restricted to the skin.
D000368:Aged; D001808:Blood Vessels / Q000503:physiopathology; D005123:Eye / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011561:Pseudoxanthoma Elasticum / Q000235:genetics / Q000503:physiopathology*; D012867:Skin / Q000503:physiopathology
Zur Klinik und Genetik des Pseudoxanthoma elasticum (PXE).