[Current state and prospect of pseudoxanthoma elasticum (PXE)]

Pseudoxanthoma elasticum (PXE; OMIM 264800) is a rare, recessively-inherited disorder, which is characterized by progressive calcification and fragmentation of the elastic fibers in the skin, eyes, and cardiovascular system. We have collected clinical information from more than 200 Japanese PXE patients by sending mail to -1,000 hospitals in Japan. In those data, PXE is found to be accompanied by reduced visual acuity in the -30% patients. The incidences of ischemic disorders of the brain and heart in the PXE have been proved to be significantly higher than those in over 50 Japanese as control. Genetic analysis with 70 PXE cases revealed new mutations of ABCC6 that are different from those of Caucasian cases, which showed no genotype-phenotype relationship.