{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:40:21Z","timestamp":1756374021781,"version":"3.44.0"},"reference-count":7,"publisher":"BMJ","issue":"7","funder":[{"DOI":"10.13039\/100017732","name":"E-Rare","doi-asserted-by":"crossref","award":["I-2101-B26"],"award-info":[{"award-number":["I-2101-B26"]}],"id":[{"id":"10.13039\/100017732","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,6,17]]},"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:p>This case report of a young adult with Cant\u00fa syndrome (CS) illustrates a remarkable journey of learning how to cope with symptom management and emotional impact associated with a rare skin condition. We describe a 20-year-old woman with a CS-related mutation in <jats:italic>ABCC9<\/jats:italic> resulting in clinical manifestations, including congenital hypertrichosis, facial dysmorphism and cardiomegaly. As of yet, no treatment is available for CS.<\/jats:p>\n               <jats:p>Little is known about the impact of CS and similar (skin) conditions on the life of affected individuals, and about their needs and preferences in this regard. Hence, we describe the psychosocial implications our case had to deal with immediately after her diagnosis. In addition, we outline her significant progress in managing disease-associated features and emotional stress prompted by considerable personal development and an increase in confidence. This example shows that a normal lifestyle is achievable for (newly diagnosed) individuals despite suffering from CS or a related skin disorder.<\/jats:p>","DOI":"10.1136\/bcr-2021-243118","type":"journal-article","created":{"date-parts":[[2021,7,12]],"date-time":"2021-07-12T12:32:22Z","timestamp":1626093142000},"page":"e243118","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Young adult with Cant\u00fa syndrome: dealing with a rare genetic skin disorder"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3409-0756","authenticated-orcid":false,"given":"Helen I","family":"Roessler","sequence":"first","affiliation":[{"name":"Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gijs","family":"van Haaften","sequence":"additional","affiliation":[{"name":"Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mieke M","family":"van Haelst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam University Medical Center, Locatie AMC, Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,7,12]]},"reference":[{"key":"2025082802053539000_14.7.e243118.1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002861"},{"key":"2025082802053539000_14.7.e243118.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31753"},{"key":"2025082802053539000_14.7.e243118.3","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1002\/ajmg.a.61517","article-title":"Three-Dimensional facial morphology in Cant\u00fa syndrome","volume":"182","author":"Roessler","year":"2020","journal-title":"Am J Med Genet A"},{"key":"2025082802053539000_14.7.e243118.4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61200"},{"key":"2025082802053539000_14.7.e243118.5","doi-asserted-by":"publisher","DOI":"10.1172\/JCI130571"},{"key":"2025082802053539000_14.7.e243118.6","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1002\/ajmg.a.33380","article-title":"Quality of life in rare genetic conditions: a systematic review of the literature","volume":"152A","author":"Cohen","year":"2010","journal-title":"Am J Med Genet A"},{"key":"2025082802053539000_14.7.e243118.7","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/s12178-017-9394-7","article-title":"Social media for patients: benefits and drawbacks","volume":"10","author":"De Martino","year":"2017","journal-title":"Curr Rev Musculoskelet Med"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-243118","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:05:45Z","timestamp":1756371945000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-243118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":7,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2021,7,12]]},"published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1136\/bcr-2021-243118"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-243118","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2021,7]]}}}