{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:36:45Z","timestamp":1787773005029,"version":"build-2784847793"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>Tuberous sclerosis complex (TSC) is a disease of varying presentations characterised by the presence of multiple hamartomas in various organ systems in the body. This is an Autosomal dominant disease with damages in two suppressor genes namely TSC1 and TSC2 located on chromosome 9 (9q34-hamartin) and chromosome 16 (16p13.3-tuberin). It is a lifelong disease with neurological manifestations, for example, epilepsy, mental retardation and autism and major dermatological features like facial fibromas (adenoma sebaceum), periungual fibromas, shagreen patches and hypopigmented macules. Some conditions, for example, autosomal dominant polycystic kidney disease can co-exist with TSC as a result of concurrent deletion of both polycystic kidney disease 1 and TSC2 genes present on chromosome 16p13.3. We present a cluster of three families with TSC having varied presentations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijd.ijd_706_20","type":"journal-article","created":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T01:47:09Z","timestamp":1715737629000},"page":"200-204","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":4,"title":["Tuberous Sclerosis Complex\u2014Varied Presentations in Family Clusters"],"prefix":"10.4103","volume":"68","author":[{"given":"Ayush","family":"Sopori","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seema","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kavya","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milap","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-12-20240829","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":"R2-12-20240829","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1002\/ajmg.1320370402","article-title":"Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma","volume":"37","author":"Harding","year":"1990","journal-title":"Am J Med Genet"},{"key":"R3-12-20240829","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1016\/0002-9149(85)90508-9","article-title":"Echocardiographic incidence of cardiac rhabdomyoma in tuberous sclerosis","volume":"55","author":"Bass","year":"1985","journal-title":"Am J Cardiol"},{"key":"R4-12-20240829","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1136\/adc.64.2.196","article-title":"Cardiac rhabdomyomata in tuberous sclerosis: Their course and diagnostic value","volume":"64","author":"Smith","year":"1989","journal-title":"Arch Dis Child"},{"key":"R5-12-20240829","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1590\/abd1806-4841.20186972","article-title":"Tuberous sclerosis complex: Review based on new diagnostic criteria","volume":"93","author":"Portocarrero","year":"2018","journal-title":"An Bras Dermatol"},{"key":"R6-12-20240829","first-page":"1774","article-title":"Cardiac tumours","volume":"104","author":"Marx","year":"1995","journal-title":"Moss and Adams Heart Disease in Infants, Children and Adolescents including the Fetus And Young Adult"},{"key":"R7-12-20240829","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/s13023-018-0764-z","article-title":"Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures?","volume":"13","author":"S\u0142owi\u0144ska","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"R8-12-20240829","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1177\/000992289603501202","article-title":"Evolution of cardiac rhabdomyoma in tuberous sclerosis complex","volume":"35","author":"DiMario","year":"1996","journal-title":"Clin Pediatr (Phila"},{"key":"R9-12-20240829","doi-asserted-by":"crossref","first-page":"255","DOI":"10.4103\/0019-5154.55636","article-title":"Mucocutaneous changes in tuberous sclerosis complex: A clinical profile of 27 Indian patients","volume":"54","author":"Ghosh","year":"2009","journal-title":"Indian J Dermatol"},{"key":"R10-12-20240829","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.3389\/fneur.2019.01116","article-title":"Tuberous Sclerosis Complex (TSC): Expert recommendations for provision of coordinated care","volume":"10","author":"Annear","year":"2019","journal-title":"Front Neurol"}],"container-title":["Indian Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/ijd.IJD_706_20","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:15:23Z","timestamp":1787771723000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/ijd.IJD_706_20"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.4103\/ijd.ijd_706_20","relation":{},"ISSN":["0019-5154"],"issn-type":[{"value":"0019-5154","type":"print"}],"subject":[],"published":{"date-parts":[[2023,3]]}}}