{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:18:39Z","timestamp":1791350319469,"version":"4.3.1"},"reference-count":29,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,3,6]],"date-time":"2014-03-06T00:00:00Z","timestamp":1394064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2014,7]]},"abstract":"Abstract<\/jats:title>\n \n Bloom Syndrome (\n BS<\/jats:styled-content>\n ,\n MIM<\/jats:styled-content>\n #210900) is an autosomal recessive genetic disorder caused by a mutation in the\n BLM<\/jats:styled-content>\n gene, which codes for the\n DNA<\/jats:styled-content>\n repair enzyme\n R<\/jats:styled-content>\n ec\n QL<\/jats:styled-content>\n 3 helicase. Without proper\n DNA<\/jats:styled-content>\n repair mechanisms, abnormal\n DNA<\/jats:styled-content>\n exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract.\n BS<\/jats:styled-content>\n patients are usually of\n A<\/jats:styled-content>\n shkenazi\n J<\/jats:styled-content>\n ewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of\n BS<\/jats:styled-content>\n is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between\n BS<\/jats:styled-content>\n and other dermatologic syndromes of similar presentation such as\n R<\/jats:styled-content>\n othmund\u2013\n T<\/jats:styled-content>\n homson\n S<\/jats:styled-content>\n yndrome,\n E<\/jats:styled-content>\n rythropoietic\n P<\/jats:styled-content>\n rotoporphyria, and\n C<\/jats:styled-content>\n ockayne\n S<\/jats:styled-content>\n yndrome is paramount to disease management and to prolonging life.\n BS<\/jats:styled-content>\n can be diagnosed through a variety of\n DNA<\/jats:styled-content>\n sequencing methods, and genetic testing is available for high\u2010risk populations. This review consolidates several sources on\n BS<\/jats:styled-content>\n sequelae and aims to suggest the importance of differentiating\n BS<\/jats:styled-content>\n from other dermatologic conditions. This paper also elucidates the recently discovered\n BRAFT<\/jats:styled-content>\n and\n FANCM<\/jats:styled-content>\n protein complexes that link\n BS<\/jats:styled-content>\n and\n F<\/jats:styled-content>\n anconi anemia.\n <\/jats:p>","DOI":"10.1111\/ijd.12408","type":"journal-article","created":{"date-parts":[[2014,3,6]],"date-time":"2014-03-06T23:23:33Z","timestamp":1394148213000},"page":"798-802","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":124,"title":["Bloom syndrome"],"prefix":"10.1111","volume":"53","author":[{"given":"Harleen","family":"Arora","sequence":"first","affiliation":[{"name":"Department of Dermatology and Cutaneous Surgery University of Miami Miller School of Medicine Miami FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna H.","family":"Chacon","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Surgery University of Miami Miller School of Medicine Miami FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonal","family":"Choudhary","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Surgery University of Miami Miller School of Medicine Miami FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"McLeod","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Surgery University of Miami Miller School of Medicine Miami FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Meshkov","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Surgery University of Miami Miller School of Medicine Miami FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keyvan","family":"Nouri","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Surgery University of Miami Miller School of Medicine Miami FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Izakovic","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Surgery University of Miami Miller School of Medicine Miami FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,3,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-227X(04)80061-3"},{"key":"e_1_2_10_3_1","first-page":"1","volume":"1","author":"Curto L","year":"2011","journal-title":"Emedicine\/medscape"},{"key":"e_1_2_10_4_1","first-page":"1","volume":"1","author":"National Institute of Health","year":"2013","journal-title":"US National Library of Medicine"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(99)00039-8"},{"key":"e_1_2_10_6_1","first-page":"2766","article-title":"The BLM helicase is necessary for normal DNA double\u2010strand break repair","volume":"62","author":"Langland G","year":"2002","journal-title":"Cancer Res"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.100448097"},{"key":"e_1_2_10_8_1","first-page":"1","volume-title":"Scriver's OMMBID: The Online Metabolic & Molecular Bases of Inherited Disease","author":"Belmont JW","year":"2013"},{"key":"e_1_2_10_9_1","first-page":"261","article-title":"Bloom syndrome","volume":"58","author":"Kondo N","year":"2000","journal-title":"Ryoikibetsu Shokogun Shirizu"},{"key":"e_1_2_10_10_1","first-page":"1","volume":"1","author":"Bajoghi AA","year":"2012","journal-title":"Emedicine\/medscape"},{"key":"e_1_2_10_11_1","first-page":"160","volume-title":"Cutaneous Oncology: Pathophysiology, Diagnosis, and Management","author":"McGregor JM","year":"1998"},{"key":"e_1_2_10_12_1","first-page":"1997","volume-title":"Gene Reviews at GeneTests: Medical Genetics Information Resource (Database Online)","author":"Sanz M","year":"2013"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2009.12.006"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymeth.2009.02.011"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.10.3417-3426.2003"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00336905"},{"key":"e_1_2_10_17_1","first-page":"1769","article-title":"Heterozygosity for the BLM(Ash) mutation and cancer risk","volume":"63","author":"Cleary SP","year":"2003","journal-title":"Cancer Res"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2011.04.005"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.3109\/10428199709058322"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/373882"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2005.04.023"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09790"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2006.19.11.1343"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1524-4725.2008.34393.x"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0733-8635(18)30101-3"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.10100.x"},{"key":"e_1_2_10_27_1","unstructured":"EllisN GermanJ.Methods for diagnosis and treatment of Bloom's syndrome. Patent grant.2011;1:1\u201311. Available at:http:\/\/www.google.com\/patents\/CA2237356C"},{"key":"e_1_2_10_28_1","first-page":"95","article-title":"Expression of BLM (the causative gene for Bloom syndrome) and screening of Bloom syndrome","volume":"10","author":"Morimoto W","year":"2002","journal-title":"Int J Mol Med"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-2712(03)00035-0"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.02556"}],"container-title":["International Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fijd.12408","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ijd.12408","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T23:11:41Z","timestamp":1696288301000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ijd.12408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,6]]},"references-count":29,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["10.1111\/ijd.12408"],"URL":"https:\/\/doi.org\/10.1111\/ijd.12408","archive":["Portico"],"relation":{},"ISSN":["0011-9059","1365-4632"],"issn-type":[{"value":"0011-9059","type":"print"},{"value":"1365-4632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,6]]},"assertion":[{"value":"2014-03-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}