{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T11:04:27Z","timestamp":1772881467344,"version":"3.50.1"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T00:00:00Z","timestamp":1716336000000},"content-version":"vor","delay-in-days":21,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Dyskeratosis congenita (DKC) is a rare genetic disorder characterized by lacy reticular skin hyperpigmentation, bone marrow failure, nail dystrophy, and oral leukoplakia. To the best of our knowledge, only around 200 cases were reported in the medical literature, and in this report, we present another distinctive case from Syria. This case report describes a male patient with generalized reticular pigmentation and abnormal nails since childhood. The patient reported a history of recurrent urethral stenosis and corneal density. Dermoscopic examination revealed pigmented lines arranged in a netlike pattern. Histopathological findings were nonspecific. Hematological values were unremarkable. A contrast CT scan revealed changes in the bladder wall. The final diagnosis of Dyskeratosis Congenita was made based on the clinical criteria. This disorder can present with additional cutaneous manifestations and systemic complications. Treatment are generally prescribed to maintain bone marrow function, based on the fact that it is the major cause of death. Regular monitoring and screening for associated conditions are recommended.<\/jats:p>","DOI":"10.1093\/omcr\/omae049","type":"journal-article","created":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T16:37:09Z","timestamp":1716395829000},"source":"Crossref","is-referenced-by-count":3,"title":["Dyskeratosis congenita: a rare case report"],"prefix":"10.1093","volume":"2024","author":[{"given":"Seham","family":"Khattab","sequence":"first","affiliation":[{"name":"Tishreen University Hospital Department of Dermatology, , Lattakia, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisham","family":"Nasser","sequence":"additional","affiliation":[{"name":"Tishreen University Hospital Department of Dermatology, , Lattakia, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1675-4125","authenticated-orcid":false,"given":"Moatasem Hussein","family":"Al-Janabi","sequence":"additional","affiliation":[{"name":"Tishreen University Hospital Department of Pathology, Cancer Research Center, , Lattakia, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fouz","family":"Hasan","sequence":"additional","affiliation":[{"name":"Tishreen University Hospital Department of Dermatology, , Lattakia, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,5,20]]},"reference":[{"key":"2024052214584579200_ref1"},{"key":"2024052214584579200_ref2","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.hoc.2009.01.003","article-title":"Dyskeratosis congenita","volume":"23","author":"Savage","year":"2009","journal-title":"Hematol Oncol Clin North Am"},{"key":"2024052214584579200_ref3","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1080\/17474086.2022.2108784","article-title":"The biology and management of dyskeratosis congenita and related disorders of telomeres","volume":"15","author":"Tummala","year":"2022","journal-title":"Expert Rev Hematol"},{"key":"2024052214584579200_ref4"},{"key":"2024052214584579200_ref5"},{"key":"2024052214584579200_ref6","author":"Hoyeraal-Hreidarsson syndrome - About the Disease - Genetic and Rare Diseases Information Center"},{"key":"2024052214584579200_ref7","author":"Revesz syndrome - About the Disease-Genetic and Rare Diseases Information Center"},{"key":"2024052214584579200_ref8"},{"key":"2024052214584579200_ref9","first-page":"157","article-title":"The diagnosis and treatment of dyskeratosis congenita: a review","volume":"5","author":"Fern\u00e1ndez Garc\u00eda","year":"2014","journal-title":"J Blood Med"},{"key":"2024052214584579200_ref10","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1111\/j.1365-2141.2009.07598.x","article-title":"Advances in the understanding of dyskeratosis congenita","volume":"145","author":"Walne","year":"2009","journal-title":"Br J Haematol"}],"container-title":["Oxford Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2024\/5\/omae049\/57760588\/omae049.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2024\/5\/omae049\/57760588\/omae049.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T16:37:13Z","timestamp":1716395833000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/omcr\/article\/doi\/10.1093\/omcr\/omae049\/7676503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,1]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5,1]]}},"URL":"https:\/\/doi.org\/10.1093\/omcr\/omae049","relation":{},"ISSN":["2053-8855"],"issn-type":[{"value":"2053-8855","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,5]]},"published":{"date-parts":[[2024,5,1]]},"article-number":"omae049"}}