{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:26:46Z","timestamp":1791973606079,"version":"4.4.0"},"reference-count":59,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,8,29]],"date-time":"2018-08-29T00:00:00Z","timestamp":1535500800000},"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":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:p>Tuberous sclerosis complex (TSC) is due to pathogenic variants in <jats:italic>TSC1<\/jats:italic> or <jats:italic>TSC2<\/jats:italic> genes resulting in hyperactivation of the mTOR pathway. Many organ systems can be affected, such as brain, skin, eye, heart, bone, kidney, or lung. Typical lesions of TSC usually are those included as major criteria, including angiofibromas, hypomelanotic macules, tubers, subependymal nodules, angiomyolipomas, cardiac rhabdomyomas, and lymphangioleiomyomatosis. However, there are many other manifestations less frequent and\/or less well known, many of them not included as clinical diagnostic criteria that are part of the clinical spectrum of TSC. The focus of this review will be on these less common and less well\u2010known manifestations of TSC. Among the rare manifestations, we will discuss some clinical findings including arteriopathy, arachnoid cysts, lymphatic involvement, chordomas, gynecological, endocrine, and gastrointestinal findings. Among the manifestations that are very frequent but much less well known, we find the sclerotic bone lesions. Although they are very frequent in TSC they have been largely overlooked and not considered diagnostic criteria, mainly because they are asymptomatic. However, it is important to know their typical characteristics to avoid misdiagnosing them as metastasis.<\/jats:p>","DOI":"10.1002\/ajmg.c.31648","type":"journal-article","created":{"date-parts":[[2018,8,30]],"date-time":"2018-08-30T06:44:04Z","timestamp":1535611444000},"page":"348-354","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Less common manifestations in TSC"],"prefix":"10.1002","volume":"178","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7096-5578","authenticated-orcid":false,"given":"Susana","family":"Boronat","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Hospital Universitari Sagrat Cor  Barcelona Spain"},{"name":"Department of Pediatric Neurology Hospital Quir\u00f3nsalud Vall\u00e8s  Sabadell Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignasi","family":"Barber","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology Hospital San Joan de D\u00e9u  Barcelona"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,8,29]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37339"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.09090227"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006565-200008000-00010"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050573"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-016-3549-3"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38260"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2013.11.003"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813492386"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-19399-7"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-008-0813-1"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2008.00496.x"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq066"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygyno.2004.05.015"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra055323"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlx032"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjr.73.865.10721329"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1477-7819-2-35"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2447"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.3747\/co.24.3555"},{"issue":"5","key":"e_1_2_11_21_1","first-page":"835","article-title":"Tuberous sclerosis and fibrous dysplasia","volume":"24","author":"Gasparetto E. 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