{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T07:10:05Z","timestamp":1751008205056,"version":"3.41.0"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T00:00:00Z","timestamp":1745280000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,6,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Trisomy 18 is the second most common autosomal trisomy, associated with high mortality, with only 5\u201310% of affected individuals surviving beyond the first year of life. Consequently, comorbidities in long-term survivors are rarely reported. We describe the case of a 6-year-old East Asian girl with trisomy 18 who presented with calcinosis cutis. The patient initially developed a firm, non-tender subcutaneous nodule on the left wrist, which later spread to the forearm and upper arm. Physical examination and imaging revealed extensive subcutaneous nodules in other extremities. High-frequency ultrasonography showed hypoechogenic masses with posterior acoustic shadows, while skin biopsy revealed fat necrosis and calcium deposition. No significant abnormalities were detected in the levels of calcium, phosphorus, parathyroid hormone or vitamin D. Based on laboratory findings and the patient\u2019s medical history, metabolic, nutritional, inflammatory and iatrogenic causes of calcinosis cutis were unlikely. Consequently, the condition was classified as either dystrophic or idiopathic calcinosis cutis. The patient was managed as an outpatient without specific treatment. This report discusses the mechanisms of calcinosis cutis and the reasons for the limited research on its association with trisomy 18. To our knowledge, this is the first report describing calcinosis cutis as a concomitant condition in a paediatric patient with trisomy 18, and it is anticipated that increased awareness of this disease may lead to a rise in reported cases in the future.<\/jats:p>","DOI":"10.1093\/skinhd\/vzaf023","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T15:59:08Z","timestamp":1745337548000},"page":"227-230","source":"Crossref","is-referenced-by-count":0,"title":["Trisomy 18 with widespread calcinosis cutis"],"prefix":"10.1093","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-1193-8631","authenticated-orcid":false,"given":"Airin","family":"Sato","sequence":"first","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine, Academic Assembly, University of Toyama , Toyama ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Matsui","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine, Academic Assembly, University of Toyama , Toyama ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0536-1679","authenticated-orcid":false,"given":"Teruhiko","family":"Makino","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine, Academic Assembly, University of Toyama , Toyama ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadamichi","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine, Academic Assembly, University of Toyama , Toyama ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,4,22]]},"reference":[{"key":"2025062702354171000_vzaf023-B1","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.3390\/genes11121466","article-title":"Unusual longevity of Edwards syndrome: a case report","volume":"11","author":"Alshami","year":"2020","journal-title":"Genes (Basel)"},{"key":"2025062702354171000_vzaf023-B2","first-page":"16","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Smith","year":"1988","edition":"4th edn"},{"key":"2025062702354171000_vzaf023-B3","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1017\/S1047951115002723","article-title":"Effectiveness of cardiac surgery in patients with trisomy 18: a single-institutional experience","volume":"26","author":"Nakai","year":"2016","journal-title":"Cardiol Young"},{"key":"2025062702354171000_vzaf023-B4","doi-asserted-by":"crossref","first-page":"e16537","DOI":"10.7717\/peerj.16537","article-title":"Significant improvement in survival outcomes of trisomy 18 with neonatal intensive care compared to non-intensive care: a single-center study","volume":"11","author":"Koshida","year":"2023","journal-title":"PeerJ"},{"key":"2025062702354171000_vzaf023-B5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1365-2133.1963.tb13525.x","article-title":"Cutaneous calculi. Subepidermal calcified nodules","volume":"75","author":"Woods","year":"1963","journal-title":"Br J Dermatol"},{"key":"2025062702354171000_vzaf023-B6","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1111\/j.1525-1470.1989.tb00815.x","article-title":"Solitary congenital nodular calcification of Winer located on the ear: report of two cases","volume":"6","author":"Az\u00f3n-Masoliver","year":"1989","journal-title":"Pediatr Dermatol"},{"key":"2025062702354171000_vzaf023-B7","doi-asserted-by":"crossref","first-page":"e0123343","DOI":"10.1371\/journal.pone.0123343","article-title":"Fetal calcifications are associated with chromosomal abnormalities","volume":"10","author":"Sahlin","year":"2015","journal-title":"PLOS ONE"},{"key":"2025062702354171000_vzaf023-B8","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1038\/modpathol.2010.99","article-title":"Trisomy 18 is a consistent cytogenetic feature in pilomatricoma","volume":"23","author":"Agoston","year":"2010","journal-title":"Mod Pathol"},{"key":"2025062702354171000_vzaf023-B9","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.jpeds.2020.05.003","article-title":"Milia-like idiopathic calcinosis cutis: when waiting is the best option","volume":"224","author":"Grazzini","year":"2020","journal-title":"J Pediatr"},{"key":"2025062702354171000_vzaf023-B10","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1111\/j.1529-8019.2012.01492.x","article-title":"Calcinosis cutis in autoimmune connective tissue diseases","volume":"25","author":"Gutierrez","year":"2012","journal-title":"Dermatol Ther"},{"key":"2025062702354171000_vzaf023-B11","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1007\/s10067-025-07335-w","article-title":"Ectopic calcifications in the musculoskeletal field: the basis for preventive and curative pharmacological strategies","volume":"44","author":"Milovanovic","year":"2025","journal-title":"Clin Rheumatol"},{"key":"2025062702354171000_vzaf023-B12","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1016\/j.ajpath.2022.07.015","article-title":"Pathogenesis of pulmonary calcification and homologies with biomineralization in other tissues","volume":"192","author":"Savic","year":"2022","journal-title":"Am J Pathol"},{"key":"2025062702354171000_vzaf023-B13","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/0190-9622(95)91803-5","article-title":"Calcifying disorders of the skin","volume":"33","author":"Walsh","year":"1995","journal-title":"J Am Acad Dermatol"},{"key":"2025062702354171000_vzaf023-B14","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/j.jaad.2023.09.076","article-title":"Prevalence of calcinosis cutis in the United States using the all of US research database","volume":"90","author":"Kam","year":"2024","journal-title":"J Am Acad Dermatol"},{"key":"2025062702354171000_vzaf023-B15","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1097\/BOR.0000000000000220","article-title":"Calcinosis: pathophysiology and management","volume":"27","author":"Valenzuela","year":"2015","journal-title":"Curr Opin Rheumatol"}],"container-title":["Skin Health and Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/skinhd\/article-pdf\/5\/3\/227\/62986977\/vzaf023.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/skinhd\/article-pdf\/5\/3\/227\/62986977\/vzaf023.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T06:35:52Z","timestamp":1751006152000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/skinhd\/article\/5\/3\/227\/8117749"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,22]]},"references-count":15,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,4,22]]},"published-print":{"date-parts":[[2025,6,27]]}},"URL":"https:\/\/doi.org\/10.1093\/skinhd\/vzaf023","relation":{},"ISSN":["2690-442X"],"issn-type":[{"type":"electronic","value":"2690-442X"}],"subject":[],"published-other":{"date-parts":[[2025,6]]},"published":{"date-parts":[[2025,4,22]]}}}