{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T11:21:38Z","timestamp":1778498498173,"version":"3.51.4"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,8,2]],"date-time":"2017-08-02T00:00:00Z","timestamp":1501632000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81641118"],"award-info":[{"award-number":["81641118"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background\/Objectives<\/jats:title><jats:p>Tuberous sclerosis complex (<jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>) is a genetic disorder and facial angiofibromas are disfiguring facial lesions. The aim of this study was to analyze the clinical and genetic features of <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content> and to assess the treatment of facial angiofibromas using topical sirolimus in Chinese children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Information was collected on 29 patients with <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>. Genetic analyses were performed in 12 children and their parents. Children were treated with 0.1% sirolimus ointment for 36\u00a0weeks. Clinical efficacy and plasma sirolimus concentrations were evaluated at baseline and 12, 24, and 36\u00a0weeks.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010seven (93%) of the 29 patients had hypomelanotic macules and 15 (52%) had shagreen patch; 11 of the 12 (92%) who underwent genetic analysis had gene mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>1<\/jats:italic> or <jats:italic><jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>2<\/jats:italic> gene. Twenty\u2010four children completed 36\u00a0weeks of treatment with topical sirolimus; facial angiofibromas were clinically undetectable in four (17%). The mean decrease in the Facial Angiofibroma Severity Index (<jats:styled-content style=\"fixed-case\">FASI<\/jats:styled-content>) score at 36\u00a0weeks was 47.6\u00a0\u00b1\u00a030.4%. There was no significant difference in <jats:styled-content style=\"fixed-case\">the FASI<\/jats:styled-content> score between weeks 24 and 36 (<jats:italic>F<\/jats:italic>\u00a0=\u00a01.00, p\u00a0=\u00a00.33). There was no detectable systemic absorption of sirolimus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Hypomelanotic macules are often the first sign of <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>. Genetic testing has a high detection rate in patients with a clinical diagnosis of <jats:styled-content style=\"fixed-case\">TSC<\/jats:styled-content>. Topical sirolimus appears to be both effective and well\u2010tolerated as a treatment of facial angiofibromas in children with TSC. The response typically plateaus after 12 to 24 weeks of treatment.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pde.13204","type":"journal-article","created":{"date-parts":[[2017,8,3]],"date-time":"2017-08-03T19:29:55Z","timestamp":1501788595000},"page":"572-577","source":"Crossref","is-referenced-by-count":16,"title":["Tuberous Sclerosis Complex in 29 Children: Clinical and Genetic Analysis and Facial Angiofibroma Responses to Topical Sirolimus"],"prefix":"10.1111","volume":"34","author":[{"given":"Senfen","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Dermatology Beijing Children's Hospital Capital Medical University Beijing China"},{"name":"Department of Dermatology Shenzhen Children's Hospital Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanxiang","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Beijing Children's Hospital Capital Medical University Beijing 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