{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T02:27:06Z","timestamp":1782181626534,"version":"3.54.5"},"reference-count":10,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2019,6,4]],"date-time":"2019-06-04T00:00:00Z","timestamp":1559606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100002738","name":"assistance publique - h\u00f4pitaux de paris","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002738","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Vasc Med"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:p>Pseudoxanthoma elasticum (PXE) is a rare disorder characterized by skin, eye, and cardiovascular lesions due to ectopic mineralization and fragmentation of elastic fibers of connective tissues. We present an atypical case of PXE with diffuse vascular calcification and negligible skin and eye lesions. The patient was a 37-year-old man suffering from severe bilateral arterial calcifications in superficial femoral and posterior tibial arteries. Eye fundoscopy and skin examination were first considered normal. This phenotype suggested first the diagnosis of Arterial Calcification due to Deficiency of CD73 (ACDC) characterized by mutations in NT5E gene. However, we found two variants in ABCC6 gene, and no variant in NT5E. Skin reexamination revealed few lateral skin papules confined to the scalp. Phenotypic overlap was described in vascular calcification disorders, between GACI and PXE phenotypes, and we discuss here expansion of this overlap, including ACDC phenotype. Identification of these expanding and overlapping phenotypes was enabled by genetic screening of the corresponding genes, in a systematic approach. We propose to create a calcification next generation sequencing (NGS) panel with NT5E, GGCX, ENPP1, and ABCC6 genes to improve the molecular diagnosis of vascular calcification.<\/jats:p>","DOI":"10.1177\/1358863x19853360","type":"journal-article","created":{"date-parts":[[2019,6,5]],"date-time":"2019-06-05T02:01:44Z","timestamp":1559700104000},"page":"461-464","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":10,"title":["Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency"],"prefix":"10.1177","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1198-4677","authenticated-orcid":false,"given":"Magali","family":"Devriese","sequence":"first","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Centre de R\u00e9f\u00e9rence des Maladies Vasculaires Rares, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Legrand","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Centre de R\u00e9f\u00e9rence des Maladies Vasculaires Rares, Paris, France"},{"name":"INSERM, U970, Paris Centre de Recherche Cardiovasculaire, Paris, France"},{"name":"University Paris Descartes, Sorbonne Paris Cit\u00e9, Facult\u00e9 de M\u00e9decine, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-C\u00e9cile","family":"Courtois","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Service de M\u00e9decine Vasculaire, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Jeunemaitre","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Centre de R\u00e9f\u00e9rence des Maladies Vasculaires Rares, Paris, France"},{"name":"INSERM, U970, Paris Centre de Recherche Cardiovasculaire, Paris, France"},{"name":"University Paris Descartes, Sorbonne Paris Cit\u00e9, Facult\u00e9 de M\u00e9decine, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Albuisson","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Europ\u00e9en Georges Pompidou, Centre de R\u00e9f\u00e9rence des Maladies Vasculaires Rares, Paris, France"},{"name":"INSERM, U970, Paris Centre de Recherche Cardiovasculaire, Paris, France"},{"name":"University Paris Descartes, Sorbonne Paris Cit\u00e9, Facult\u00e9 de M\u00e9decine, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2019,6,4]]},"reference":[{"key":"bibr1-1358863X19853360","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.213"},{"key":"bibr2-1358863X19853360","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.020"},{"key":"bibr3-1358863X19853360","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0912923"},{"key":"bibr4-1358863X19853360","doi-asserted-by":"publisher","DOI":"10.1177\/1358863X17724263"},{"key":"bibr5-1358863X19853360","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2016.03.068"},{"key":"bibr6-1358863X19853360","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34264"},{"key":"bibr7-1358863X19853360","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33162"},{"key":"bibr8-1358863X19853360","doi-asserted-by":"publisher","DOI":"10.1161\/ATVBAHA.114.304017"},{"key":"bibr9-1358863X19853360","doi-asserted-by":"publisher","DOI":"10.1126\/scisignal.aaf9109"},{"key":"bibr10-1358863X19853360","unstructured":"Connective Tissue Diseases NGS Panel, GTR: Genetic Testing Registry \u2013 NCBI, https:\/\/www.ncbi.nlm.nih.gov\/gtr\/tests\/509372.7\/ (Updated 25 July 2014, accessed 9 November 2018)."}],"container-title":["Vascular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1358863X19853360","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1358863X19853360","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1358863X19853360","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T03:30:08Z","timestamp":1777692608000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1358863X19853360"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,4]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,10]]}},"alternative-id":["10.1177\/1358863X19853360"],"URL":"https:\/\/doi.org\/10.1177\/1358863x19853360","relation":{},"ISSN":["1358-863X","1477-0377"],"issn-type":[{"value":"1358-863X","type":"print"},{"value":"1477-0377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,4]]}}}