biostudies-literaturePelttari STays185https://www.ebi.ac.uk/biostudies/studies/S-EPMC9077871biostudies-literatureUnknown17(1)<h4>Background</h4>Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate concentration. We aimed to assess the prevalence of PXE in Finland and to characterize the Finnish PXE population. A nationwide registry search was performed to identify patients with ICD-10 code Q82.84. Information was gathered from available medical records which were requisitioned from hospitals and health centers. Misdiagnosed patients and patients with insufficient records were excluded.<h4>Results</h4>The prevalence of PXE in Finland was 1:260,000 with equal sex distribution. Patients with high conventional cardiovascular risk had more visual and vascular complications than patients with low risk. Four patients (19%Orphanet journal of rare diseasesVarious vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study.PMC90778719X037Nevalainen PIUusitalo HHinkka TPelttari SVerschuere SHuhtala HVaaramaki SVanakker OPorsti IfalseVarious vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study.<h4>Background</h4>Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate concentration. We aimed to assess the prevalence of PXE in Finland and to characterize the Finnish PXE population. A nationwide registry search was performed to identify patients with ICD-10 code Q82.84. Information was gathered from available medical records which were requisitioned from hospitals and health centers. Misdiagnosed patients and patients with insufficient records were excluded.<h4>Results</h4>The prevalence of PXE in Finland was 1:260,000 with equal sex distribution. Patients with high conventional cardiovascular risk had more visual and vascular complications than patients with low risk. Four patients (19%2022-01-01T00:00:00Z2022 May2025-06-01T12:11:11.607Z2024-11-20T15:45:44.889ZS-EPMC90778713552599710.1186/s13023-022-02341-6