{"id":1666,"date":"2021-10-15T00:50:26","date_gmt":"2021-10-15T00:50:26","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1666"},"modified":"2026-02-23T21:11:13","modified_gmt":"2026-02-23T21:11:13","slug":"sporadic-facial-angiofibroma-and-sporadic-angiomyolipoma-mimicking-tuberous-sclerosis-complex","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/10\/15\/sporadic-facial-angiofibroma-and-sporadic-angiomyolipoma-mimicking-tuberous-sclerosis-complex\/","title":{"rendered":"Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking Tuberous Sclerosis Complex (Contributed by Dr. Katarzyna Klonowska)"},"content":{"rendered":"<p>Tuberous Sclerosis Complex (TSC) is due to\u00a0<em>TSC1<\/em>\/<em>TSC2\u00a0<\/em>mutations, leading to the development of tumors in multiple organs. Here, we describe an individual\u00a0with minimal TSC clinical features for whom we identified four different inactivating\u00a0<em>TSC2<\/em> mutations, including two unique mutations in each of\u00a0angiomyolipoma and angiofibroma tumors; these mutations were not present at all in other analyzed tissues. This suggests that both the angiomyolipoma and\u00a0angiofibroma occurred by chance, mimicking TSC, but this patient does not\u00a0have\u00a0the\u00a0TSC\u00a0syndrome. Our case demonstrates the importance of detailed genetic evaluation\u00a0and appropriate genetic counselling for individuals with marginal TSC features. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/10\/10\/jmedgenet-2021-108160\">https:\/\/jmg.bmj.com\/content\/early\/2021\/10\/10\/jmedgenet-2021-108160<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/10\/15\/sporadic-facial-angiofibroma-and-sporadic-angiomyolipoma-mimicking-tuberous-sclerosis-complex\/jmedgenet-2021-108160-r1_kwiatkowskilab-pic\/\" rel=\"attachment wp-att-1667\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1667\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/10\/jmedgenet-2021-108160.R1_KwiatkowskiLab-pic-300x225.jpeg\" alt=\"\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/10\/jmedgenet-2021-108160.R1_KwiatkowskiLab-pic-300x225.jpeg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/10\/jmedgenet-2021-108160.R1_KwiatkowskiLab-pic-1024x768.jpeg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/10\/jmedgenet-2021-108160.R1_KwiatkowskiLab-pic-768x576.jpeg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/10\/jmedgenet-2021-108160.R1_KwiatkowskiLab-pic-1536x1152.jpeg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/10\/jmedgenet-2021-108160.R1_KwiatkowskiLab-pic-2048x1536.jpeg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/10\/jmedgenet-2021-108160.R1_KwiatkowskiLab-pic-640x480.jpeg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>Dr. David Kwiatkowski research group in Brigham and Women\u2019s Hospital\/Harvard Medical School<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tuberous Sclerosis Complex (TSC) is due to\u00a0TSC1\/TSC2\u00a0mutations, leading to the development of tumors in multiple organs. Here, we describe an individual\u00a0with minimal TSC clinical features for whom we identified four different inactivating\u00a0TSC2 mutations, including two unique mutations in each of\u00a0angiomyolipoma and angiofibroma tumors; these mutations were not present at all in other analyzed tissues. This [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/10\/15\/sporadic-facial-angiofibroma-and-sporadic-angiomyolipoma-mimicking-tuberous-sclerosis-complex\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1666","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking Tuberous Sclerosis Complex (Contributed by Dr. Katarzyna Klonowska) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/10\/15\/sporadic-facial-angiofibroma-and-sporadic-angiomyolipoma-mimicking-tuberous-sclerosis-complex\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking Tuberous Sclerosis Complex (Contributed by Dr. Katarzyna Klonowska) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Tuberous Sclerosis Complex (TSC) is due to\u00a0TSC1\/TSC2\u00a0mutations, leading to the development of tumors in multiple organs. Here, we describe an individual\u00a0with minimal TSC clinical features for whom we identified four different inactivating\u00a0TSC2 mutations, including two unique mutations in each of\u00a0angiomyolipoma and angiofibroma tumors; these mutations were not present at all in other analyzed tissues. This [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/10\/15\/sporadic-facial-angiofibroma-and-sporadic-angiomyolipoma-mimicking-tuberous-sclerosis-complex\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-10-15T00:50:26+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T21:11:13+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/10\/jmedgenet-2021-108160.R1_KwiatkowskiLab-pic-scaled.jpeg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1920\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/10\\\/15\\\/sporadic-facial-angiofibroma-and-sporadic-angiomyolipoma-mimicking-tuberous-sclerosis-complex\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/10\\\/15\\\/sporadic-facial-angiofibroma-and-sporadic-angiomyolipoma-mimicking-tuberous-sclerosis-complex\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking Tuberous Sclerosis Complex (Contributed by Dr. Katarzyna Klonowska)\",\"datePublished\":\"2021-10-15T00:50:26+00:00\",\"dateModified\":\"2026-02-23T21:11:13+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/10\\\/15\\\/sporadic-facial-angiofibroma-and-sporadic-angiomyolipoma-mimicking-tuberous-sclerosis-complex\\\/\"},\"wordCount\":138,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/10\\\/15\\\/sporadic-facial-angiofibroma-and-sporadic-angiomyolipoma-mimicking-tuberous-sclerosis-complex\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2021\\\/10\\\/jmedgenet-2021-108160.R1_KwiatkowskiLab-pic-300x225.jpeg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/10\\\/15\\\/sporadic-facial-angiofibroma-and-sporadic-angiomyolipoma-mimicking-tuberous-sclerosis-complex\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/10\\\/15\\\/sporadic-facial-angiofibroma-and-sporadic-angiomyolipoma-mimicking-tuberous-sclerosis-complex\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/10\\\/15\\\/sporadic-facial-angiofibroma-and-sporadic-angiomyolipoma-mimicking-tuberous-sclerosis-complex\\\/\",\"name\":\"Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking Tuberous Sclerosis Complex (Contributed by Dr. Katarzyna Klonowska) - 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