{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T01:16:42Z","timestamp":1772241402302,"version":"3.50.1"},"reference-count":11,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:p> This report discusses a case of linear and whorled nevoid hypermelanosis associated with cerebellar atrophy, ocular and developmental anomalies compatible with Joubert syndrome. Linear and whorled nevoid hypermelanosis is a rare disorder of skin pigmentation characterized by swirls and whorls of hyperpigmented macules in a reticulate pattern along Blaschko\u2019s lines. Neurologic, cardiac, skeletal and developmental anomalies have been reported. We present a case of linear and whorled nevoid hypermelanosis on an 18-year-old woman who also presented with cerebellar atrophy, jerk nystagmus, macrocephaly and developmental delay. Those symptoms were compatible with Joubert syndrome. A complete work-up failed to reveal other systemic or skeletal anomalies. No chromosomal alteration was found on karyotyping carried out on a skin specimen. Much remains to be known about linear and whorled nevoid hypermelanosis. It is generally a benign condition but association with various congenital anomalies have been reported. Proper work-up is advised in order to exclude congenital anomalies. <\/jats:p>","DOI":"10.1177\/2050313x19876725","type":"journal-article","created":{"date-parts":[[2019,9,13]],"date-time":"2019-09-13T10:46:17Z","timestamp":1568371577000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Linear and whorled nevoid hypermelanosis and Joubert syndrome: a novel association: A case report and literature review"],"prefix":"10.1177","volume":"7","author":[{"given":"Carolina","family":"Fernandes","sequence":"first","affiliation":[{"name":"Department of Dermatology, University of Sherbrooke, Sherbrooke, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9anne","family":"Waddell","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of Sherbrooke, Sherbrooke, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara-\u00c9lizabeth","family":"Jean","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of Sherbrooke, Sherbrooke, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2019,9,13]]},"reference":[{"key":"bibr1-2050313X19876725","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2009.04412.x"},{"key":"bibr2-2050313X19876725","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.171007"},{"key":"bibr3-2050313X19876725","unstructured":"Parisi M, Glass I. Joubert syndrome. GeneReviews, https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1325\/#joubert.Molecular_Genetics (accessed 17 July 2019)."},{"key":"bibr4-2050313X19876725","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-20"},{"key":"bibr5-2050313X19876725","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2007.00387.x"},{"key":"bibr6-2050313X19876725","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2005.01201.x"},{"key":"bibr7-2050313X19876725","doi-asserted-by":"publisher","DOI":"10.1159\/000018187"},{"key":"bibr8-2050313X19876725","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2017.01.035"},{"key":"bibr9-2050313X19876725","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1470.1999.016001071.x"},{"key":"bibr10-2050313X19876725","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(94)70090-7"},{"key":"bibr11-2050313X19876725","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjms.2016.04.024"}],"container-title":["SAGE Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X19876725","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X19876725","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X19876725","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T23:44:39Z","timestamp":1740786279000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X19876725"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1]]},"references-count":11,"alternative-id":["10.1177\/2050313X19876725"],"URL":"https:\/\/doi.org\/10.1177\/2050313x19876725","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"value":"2050-313X","type":"print"},{"value":"2050-313X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1]]},"article-number":"2050313X19876725"}}