{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T07:57:21Z","timestamp":1790063841103,"version":"4.0.1"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,4,21]],"date-time":"2023-04-21T00:00:00Z","timestamp":1682035200000},"content-version":"vor","delay-in-days":20,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the formation of hamartomas in organ systems such as the brain, skin, kidneys and lungs. Patients with TSC are usually diagnosed early in life. However, in some cases, the diagnosis is delayed until adulthood because various manifestations occur at various times throughout an individual\u2019s life. In this regard, we present the case of a female patient diagnosed at the beginning of the seventh decade of life. The patient had a history of seizures and showed clinical findings on the skin (facial angiofibromas, ungual fibromas, \u2018Confetti-like\u2019 skin lesions, shagreen patch), brain (cortical tubers), heart (cardiac rhabdomyomas), kidneys (angiomyolipomas) and a positive genetic test for mutations in TSC2, fulfilling the diagnostic criteria. We compared the differences between manifestations in patients diagnosed during childhood and adulthood. Knowledge of the clinical spectrum of TSC allows early identification.<\/jats:p>","DOI":"10.1093\/omcr\/omad029","type":"journal-article","created":{"date-parts":[[2023,4,21]],"date-time":"2023-04-21T13:06:04Z","timestamp":1682082364000},"source":"Crossref","is-referenced-by-count":7,"title":["Late diagnosis of tuberous sclerosis: a case report"],"prefix":"10.1093","volume":"2023","author":[{"given":"Luis F","family":"Dom\u00ednguez-Valdez","sequence":"first","affiliation":[{"name":"Instituto Mexicano del Seguro Social Departamento de Medicina Interna, UMAE Hospital de Especialidades \u2018Dr. Antonio Fraga Mouret\u2019, Centro M\u00e9dico Nacional \u2018La Raza\u2019, , Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime E","family":"Hern\u00e1ndez-Utrera","sequence":"additional","affiliation":[{"name":"Instituto Mexicano del Seguro Social Departamento de Medicina Interna, UMAE Hospital de Especialidades \u2018Dr. Antonio Fraga Mouret\u2019, Centro M\u00e9dico Nacional \u2018La Raza\u2019, , Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iliana N","family":"Ch\u00e1vez-S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Instituto Mexicano del Seguro Social Departamento de Medicina Interna, UMAE Hospital de Especialidades \u2018Dr. Antonio Fraga Mouret\u2019, Centro M\u00e9dico Nacional \u2018La Raza\u2019, , Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana L","family":"Peralta-Amaro","sequence":"additional","affiliation":[{"name":"Instituto Mexicano del Seguro Social Departamento de Medicina Interna, UMAE Hospital de Especialidades \u2018Dr. Antonio Fraga Mouret\u2019, Centro M\u00e9dico Nacional \u2018La Raza\u2019, , Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melina J","family":"Talin-Bosquez","sequence":"additional","affiliation":[{"name":"Instituto Mexicano del Seguro Social Departamento de Cardiolog\u00eda, UMAE Hospital de Especialidades \u2018Dr. Antonio Fraga Mouret\u2019, Centro M\u00e9dico Nacional \u2018La Raza\u2019, , Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis A","family":"Garc\u00eda-Pedraza","sequence":"additional","affiliation":[{"name":"Instituto Mexicano del Seguro Social Departamento de Medicina Interna, UMAE Hospital de Especialidades \u2018Dr. Antonio Fraga Mouret\u2019, Centro M\u00e9dico Nacional \u2018La Raza\u2019, , Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos A","family":"Hern\u00e1ndez-Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Instituto Mexicano del Seguro Social Departamento de Medicina Interna, UMAE Hospital de Especialidades \u2018Dr. Antonio Fraga Mouret\u2019, Centro M\u00e9dico Nacional \u2018La Raza\u2019, , Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana K","family":"Delgado-Carmona","sequence":"additional","affiliation":[{"name":"Instituto Mexicano del Seguro Social Departamento de Medicina Interna, UMAE Hospital de Especialidades \u2018Dr. Antonio Fraga Mouret\u2019, Centro M\u00e9dico Nacional \u2018La Raza\u2019, , Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abraham E","family":"Gracia-Ramos","sequence":"additional","affiliation":[{"name":"Instituto Mexicano del Seguro Social Departamento de Medicina Interna, UMAE Hospital General \u2018Dr. Gaudencio Gonz\u00e1lez Garza\u2019, Centro M\u00e9dico Nacional \u2018La Raza\u2019, , Mexico City, Mexico"},{"name":"Instituto Polit\u00e9cnico Nacional Secci\u00f3n de Estudios de Posgrado e Investigaci\u00f3n, Escuela Superior de Medicina, , Mexico City, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,4,20]]},"reference":[{"key":"2023042113053586100_ref1","doi-asserted-by":"crossref","first-page":"16035","DOI":"10.1038\/nrdp.2016.35","article-title":"Tuberous sclerosis complex","volume":"2","author":"Henske","year":"2016","journal-title":"Nat Rev Dis Primers"},{"key":"2023042113053586100_ref2","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1146\/annurev-genom-083118-015354","article-title":"Genetic etiologies, diagnosis, and treatment of tuberous sclerosis complex","volume":"20","author":"Salussolia","year":"2019","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"2023042113053586100_ref3","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.pediatrneurol.2021.07.011","article-title":"Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations","volume":"123","author":"Northrup","year":"2021","journal-title":"Pediatr Neurol"},{"key":"2023042113053586100_ref4","doi-asserted-by":"crossref","first-page":"278","DOI":"10.2340\/00015555-2203","article-title":"The adult phenotype of tuberous sclerosis complex","volume":"96","author":"Nathan","year":"2016","journal-title":"Acta Derm Venereol"},{"key":"2023042113053586100_ref5","doi-asserted-by":"crossref","first-page":"806","DOI":"10.7326\/0003-4819-154-12-201106210-00008","article-title":"Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequences","volume":"154","author":"Seibert","year":"2011","journal-title":"Ann Intern Med"},{"key":"2023042113053586100_ref6","doi-asserted-by":"crossref","first-page":"e117","DOI":"10.1542\/peds.2010-0192","article-title":"Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs","volume":"127","author":"Staley","year":"2011","journal-title":"Pediatrics"},{"key":"2023042113053586100_ref7","volume-title":"GeneReviews\u00ae","author":"Northrup","year":"2021"},{"key":"2023042113053586100_ref8","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1136\/archdischild-2016-312001","article-title":"Cutaneous manifestations of tuberous sclerosis complex and the paediatrician\u2019s role","volume":"102","author":"Cardis","year":"2017","journal-title":"Arch Dis Child"},{"key":"2023042113053586100_ref9","doi-asserted-by":"crossref","first-page":"e32","DOI":"10.1148\/rg.e32","article-title":"Pictorial review of tuberous sclerosis in various organs","volume":"28","author":"Umeoka","year":"2008","journal-title":"Radiographics"},{"key":"2023042113053586100_ref10","doi-asserted-by":"crossref","first-page":"e63910","DOI":"10.1371\/journal.pone.0063910","article-title":"Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients","volume":"8","author":"Wataya-Kaneda","year":"2013","journal-title":"PLoS One"},{"key":"2023042113053586100_ref11","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1186\/s13023-021-01974-3","article-title":"A population-based study to estimate survival and standardized mortality of tuberous sclerosis complex (TSC) in Taiwan","volume":"16","author":"Peng","year":"2021","journal-title":"Orphanet J Rare Dis"}],"container-title":["Oxford Medical Case 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