{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T20:07:51Z","timestamp":1773000471805,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T00:00:00Z","timestamp":1741132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T00:00:00Z","timestamp":1741132800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2025,5]]},"abstract":"Abstract<\/jats:title>\n \n Neonatal inflammatory skin and bowel disease 2 is an epidermal growth factor receptor (EGFR)\u2010associated autosomal recessive early\u2010infantile disease with inflammatory skin, alopecia, progeroid features, electrolyte imbalance, recurrent infections, and premature death. Pseudoxanthoma elasticum (PXE) is another autosomal recessive skin disorder with some ocular and cardiovascular alterations, caused by variations in the ATP binding cassette subfamily c member 6\n (ABCC6)<\/jats:italic>\n gene. However, ABCC6\u2010deficiency is, rarely, also presented as as an early\/late\u2010infantile autosomal recessive generalized arterial calcification of infancy. In this case report we present the known homozygous\n EGFR<\/jats:italic>\n p.G428D and the compound heterozygous\n ABCC6<\/jats:italic>\n p.R518* and p.R1221H variations in a 7\u2010month\u2010old Roma girl from a consanguineous family, who developed a combined EGFR\/ABCC6\u2010associated phenotype and died at 10\u2009months of age. This case report and data in literature led us to conclude, that (1) EGFR\u2010associated disease, with a serious early\u2010infantile skin manifestation and occasional cardiovascular defects, may clinically overshadow other similar diseases such as generalized arterial calcification of infancy, if the single\u2010gene\/variant sequencing is used for diagnostics. (2) This probability increases if the person under investigation comes from a consanguineous family, and (3) the presented biallelic\n EGFR<\/jats:italic>\n variation may be a co\u2010factor of PXE severity. However, more analyses are required to make this conclusion definitive.\n <\/jats:p>","DOI":"10.1111\/1346-8138.17682","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T17:47:32Z","timestamp":1741715252000},"page":"929-933","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A severe\n \n ABCC6<\/i>\n <\/scp>\n \u2010induced generalized arterial calcification of infancy overshadowed by the\n \n EGFR<\/i>\n <\/scp>\n \u2010associated neonatal inflammatory skin and bowel disease 2 in a Roma girl"],"prefix":"10.1111","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6633-4343","authenticated-orcid":false,"given":"Anton","family":"Karabinos","sequence":"first","affiliation":[{"name":"Laboratory of Clinical Genetics Medirex, Inc. Kosice Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pavol","family":"Hrebenar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital in Poprad Poprad Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michaela","family":"Hyblova","sequence":"additional","affiliation":[{"name":"Medirex Group Academy n.p.o. Nitra Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Tomkova","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Genetics Medirex, Inc. Bratislava Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lukas","family":"Plank","sequence":"additional","affiliation":[{"name":"Department of Pathology Comenius University Jessenius Medical Faculty and University Hospital in Martin Martin Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Krizan","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Genetics Medirex, Inc. Bratislava Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Repko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital in Poprad Poprad Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata","family":"Soltysova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital in Poprad Poprad Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,3,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.164"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.156"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-018-0011-0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.15317"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.15377"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/jcag\/gwy008.211"},{"key":"e_1_2_7_8_1","article-title":"Neonatal inflammatory skin and bowel disease type 2: a very rare disease associated with EGFR mutation","volume":"10","author":"Lemos M","year":"2021","journal-title":"J Pediatr Neonatal Individ Med"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.32932\/pjnh.2022.03.177"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.020"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24498"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/jpm14010054"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3790"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2023.0377"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.040972"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2023.103616"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.17682","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1346-8138.17682","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.17682","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T17:39:22Z","timestamp":1772991562000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.17682"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,5]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1111\/1346-8138.17682"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.17682","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,5]]},"assertion":[{"value":"2024-04-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-11","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}