{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:04:10Z","timestamp":1753877050107,"version":"3.41.2"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"11-12","license":[{"start":{"date-parts":[[2021,11,26]],"date-time":"2021-11-26T00:00:00Z","timestamp":1637884800000},"content-version":"vor","delay-in-days":25,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,11,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Dyskeratosis congenita (DC) is an inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Non-cutaneous abnormalities (dental, gastrointestinal, genitourinary, neurological, ophthalmic, pulmonary and skeletal) have also been reported. Bone marrow failure (BMF) is the main cause of early mortality, with an additional predisposition to malignancy. DC results from an anomalous progressive shortening of telomeres resulting in DNA replication problems inducing replicative senescence. Men are more affected than women are and X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. There are no targeted therapies for DC. Patients treated with androgens had a hematological response. We herein describe case of a 32-year-old man, presented with several characteristic systemic features of this condition, including the classic triad of lesions, dysplastic bone marrow, epiphora and liver cirrhosis with grade I esophageal varices. Therefore, a prophylactic propranolol was started in additional to danazol. Three-week later, the patient had subsequent increases in his platelet, red cell and white cell counts.<\/jats:p>","DOI":"10.1093\/omcr\/omab041","type":"journal-article","created":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T07:11:27Z","timestamp":1638342687000},"source":"Crossref","is-referenced-by-count":0,"title":["Dyskeratosis congenita: rare case report of Syria"],"prefix":"10.1093","volume":"2021","author":[{"given":"Firas","family":"Hussein","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zainab","family":"Omar","sequence":"additional","affiliation":[{"name":"Department of Clinical Hematology, Tishreen University Hospital, Tishreen Street, Lattakia 041, Syria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,11,25]]},"reference":[{"key":"2021122815200692600_ref1","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1001\/archderm.1930.01440070079008","article-title":"Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris","volume":"21","author":"Cole","year":"1930","journal-title":"Arch Dermatol Syph"},{"key":"2021122815200692600_ref2","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1046\/j.1365-2141.2000.02109.x","article-title":"Dyskeratosis congenita in all its forms","volume":"110","author":"Dokal","year":"2000","journal-title":"Br J Haematol"},{"key":"2021122815200692600_ref3","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1182\/asheducation-2011.1.480","article-title":"Dyskeratosis congenita","volume":"2011","author":"Dokal","year":"2011","journal-title":"Hematology Am Soc Hematol Educ Program"},{"key":"2021122815200692600_ref4","doi-asserted-by":"crossref","first-page":"2990","DOI":"10.1182\/blood-2012-03-418038","article-title":"Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita","volume":"120","author":"Beier","year":"2012","journal-title":"Blood"},{"key":"2021122815200692600_ref5","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1046\/j.1529-8019.2002.01515.x","article-title":"Nail manifestations of some important genetic disorders in children","volume":"15","author":"Rogers","year":"2002","journal-title":"Dermatol Ther"},{"key":"2021122815200692600_ref6","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1016\/j.jaad.2017.07.018","article-title":"Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure","volume":"77","author":"Ward","year":"2017","journal-title":"J Am Acad Dermatol"},{"key":"2021122815200692600_ref7","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1111\/j.1365-2559.2010.03612.x","article-title":"The pathology of bone marrow failure","volume":"57","author":"Leguit","year":"2010","journal-title":"Histopathology"},{"key":"2021122815200692600_ref8","doi-asserted-by":"crossref","first-page":"2353","DOI":"10.1056\/NEJMra0903373","article-title":"Telomere diseases","volume":"361","author":"Calado","year":"2009","journal-title":"N Engl J Med"},{"key":"2021122815200692600_ref9","first-page":"845125","article-title":"Dyskeratosis congenita: a report of two cases","volume":"2013","author":"Karunakaran","year":"2013","journal-title":"Case Rep Dent"},{"key":"2021122815200692600_ref10","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.blre.2010.03.002","article-title":"Pathophysiology and management of inherited bone marrow failure syndromes","volume":"24","author":"Shimamura","year":"2010","journal-title":"Blood Rev"}],"container-title":["Oxford Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2021\/11-12\/omab041\/41940630\/omab041.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2021\/11-12\/omab041\/41940630\/omab041.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,28]],"date-time":"2021-12-28T15:54:05Z","timestamp":1640706845000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/omcr\/article\/doi\/10.1093\/omcr\/omab041\/6439726"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,1]]},"references-count":10,"journal-issue":{"issue":"11-12","published-print":{"date-parts":[[2021,11,1]]}},"URL":"https:\/\/doi.org\/10.1093\/omcr\/omab041","relation":{},"ISSN":["2053-8855"],"issn-type":[{"type":"electronic","value":"2053-8855"}],"subject":[],"published-other":{"date-parts":[[2021,11]]},"published":{"date-parts":[[2021,11,1]]},"article-number":"omab041"}}