{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T07:06:55Z","timestamp":1756192015041,"version":"3.40.4"},"reference-count":19,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2017,9,20]]},"abstract":"<jats:p>Tuberous sclerosis(TS) is an autosomal dominant disease caused by mutations in<jats:italic>TSC1<\/jats:italic>and<jats:italic>TSC2<\/jats:italic>genes.<jats:italic>TSC2<\/jats:italic>gene is located in chromosome 16p13.3, adjacent to<jats:italic>PKD1<\/jats:italic>gene, responsible for the autosomal dominant polycystic kidney disease. In a rare subgroup of patients, the presence of a deletion which simultaneously affects the<jats:italic>TSC2<\/jats:italic>and<jats:italic>PKD1<\/jats:italic>genes has been confirmed. TSC2\/PKD1-Contiguous Gene Syndrome is characterised by the early appearance of autosomal dominant polycystic kidney disease in combination with several phenotypic manifestations of TS. We present a 13-year-old girl with bilateral renal cysts detected at the age of 9 months. At the age of 13, she was referred to the Dermatology Outpatients Clinic due to a facial cutaneous eruption. She presented with facial erythema, fibroadenomas with malar distribution and disseminated hypomelanotic macules, meeting the criteria for TS. TSC2\/PKD1 Contiguous Gene Syndrome deletion was suspected, being later confirmed by genetic testing.<\/jats:p>","DOI":"10.1136\/bcr-2017-220766","type":"journal-article","created":{"date-parts":[[2017,10,4]],"date-time":"2017-10-04T11:25:39Z","timestamp":1507116339000},"page":"bcr-2017-220766","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Beyond polycystic kidney disease"],"prefix":"10.1136","volume":"2017","author":[{"given":"Susana Franco","family":"Santos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Telma","family":"Francisco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Isabel","family":"Cordeiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Jo\u00e3o Paiva","family":"Lopes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2017,10,4]]},"reference":[{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.2.e17"},{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.2","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1086\/514888","article-title":"Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene","volume":"61","author":"Sampson","year":"1997","journal-title":"Am J Hum Genet"},{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedhc.2006.05.004"},{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.4","doi-asserted-by":"crossref","first-page":"1869","DOI":"10.1007\/s11255-014-0735-9","article-title":"End-stage renal disease in tuberous sclerosis complex-polycystic kidney disease contiguous gene syndrome: epidemiology, clinical manifestations and implications for transplantation","volume":"46","author":"Lim","year":"2014","journal-title":"Int Urol Nephrol"},{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.5","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21037"},{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.6","first-page":"64","article-title":"Tuberous sclerosis and polycystic kidney disease: a rare association","volume":"63","author":"Das","year":"2015","journal-title":"J Assoc Physicians India"},{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.7","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra055323"},{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.8","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.anpedi.2012.12.004","article-title":"S\u00edndrome de deleci\u00f3n de genes contiguos TSC2\/PKD1","volume":"79","author":"Llamas Velasco","year":"2013","journal-title":"Anales de Pediatr\u00eda"},{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.9","doi-asserted-by":"publisher","DOI":"10.1097\/00000478-200202000-00006"},{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.10","doi-asserted-by":"publisher","DOI":"10.1038\/ng1294-328"},{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.11","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-004-1442-z"},{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.12","first-page":"336","article-title":"Tuberous sclerosis presenting with acute kidney failure, pyelonephritis, and polycystic kidney disease","volume":"8","author":"Mohkam","year":"2014","journal-title":"Iran J Kidney Dis"},{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.13","doi-asserted-by":"publisher","DOI":"10.1093\/jjco\/hyu024"},{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.14","doi-asserted-by":"crossref","first-page":"e15","DOI":"10.1159\/000320891","article-title":"Tuberous sclerosis complex renal disease","volume":"118","author":"Dixon","year":"2011","journal-title":"Nephron Exp Nephrol"},{"key":"2025042712471792000_2017.oct03_1.bcr-2017-220766.15","doi-asserted-by":"crossref","unstructured":"Robert A , Leroy V , Riquet A , et al . 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