{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:56:03Z","timestamp":1747184163283,"version":"3.40.5"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,7,4]],"date-time":"2020-07-04T00:00:00Z","timestamp":1593820800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81703123"],"award-info":[{"award-number":["81703123"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cutan Pathol"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Buschke\u2010Ollendorff syndrome (BOS; OMIM 166700) is a rare autosomal dominant disorder characterized by the existence of connective tissue nevus and\/or osteopoikilosis. The skin lesions usually present as firm, yellow, or flesh\u2010colored papules and nodules, which may coalesce into plaques and increase in size and number over time. We present a case of a 26\u2010year\u2010old male with multiple subcutaneous nodules on the waist and thigh for more than 20\u2009years. Being deeply seated, his skin lesions were not visible and could only be appreciated by palpation. Accordingly, pathology showed an increase in thick, crossed, or paralleled, elastic fibers arranged between the collagen bundles in the lower part of the reticular dermis and the subcutaneous fat with mucin deposition. Heterozygous point mutation in exon 8 of the <jats:italic>LEMD3<\/jats:italic> gene was detected, which confirmed the diagnosis of BOS. The deeply situated nature of skin lesions noted in our case has not been reported in the literature of BOS. Our case thus expands the clinical and pathological features of the disease.<\/jats:p>","DOI":"10.1111\/cup.13771","type":"journal-article","created":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T03:00:01Z","timestamp":1591758001000},"page":"77-80","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>Buschke\u2010Ollendorff<\/scp> syndrome with <scp><i>LEMD3<\/i><\/scp> germline stopgain mutation p.<scp>R678<\/scp>* presenting as multiple subcutaneous nodules with mucin deposition"],"prefix":"10.1111","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8998-1129","authenticated-orcid":false,"given":"Zhijun","family":"Xu","sequence":"first","affiliation":[{"name":"Southern Medical University  Guangzhou China"},{"name":"Dermatology Hospital, Southern Medical University  Guangzhou Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao","family":"Yang","sequence":"additional","affiliation":[{"name":"Dermatology Hospital, Southern Medical University  Guangzhou Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruzeng","family":"Xue","sequence":"additional","affiliation":[{"name":"Department of Dermatology Dermatology Hospital, Southern Medical University  Guangzhou Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,7,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.1986.tb00419.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14096"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2001.04152.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00256-002-0605-x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-007-9043-z"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1453"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14366"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2015.12.002"},{"issue":"1","key":"e_1_2_5_10_1","first-page":"31","article-title":"Buschke\u2010Ollendorff syndrome in a 6\u2010year\u2010old patient: clinical and histopathological aspects of a rare disease","volume":"29","author":"Diotallevi F","year":"2020","journal-title":"Acta Dermatovenerol Alp Pannonica Adriat"}],"container-title":["Journal of Cutaneous Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcup.13771","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cup.13771","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cup.13771","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cup.13771","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T12:08:21Z","timestamp":1692965301000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cup.13771"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,4]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1111\/cup.13771"],"URL":"https:\/\/doi.org\/10.1111\/cup.13771","archive":["Portico"],"relation":{},"ISSN":["0303-6987","1600-0560"],"issn-type":[{"type":"print","value":"0303-6987"},{"type":"electronic","value":"1600-0560"}],"subject":[],"published":{"date-parts":[[2020,7,4]]},"assertion":[{"value":"2020-03-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}