Tuberous sclerosis complex—varied presentations in family clusters
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) an...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Indian Journal of Dermatology |
| Subjects: | |
| Online Access: | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2023;volume=68;issue=2;spage=200;epage=204;aulast=Sopori |
| _version_ | 1797824298133487616 |
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| author | Ayush Sopori Seema Sharma Kavya Sharma Milap Sharma |
| author_facet | Ayush Sopori Seema Sharma Kavya Sharma Milap Sharma |
| author_sort | Ayush Sopori |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-13T10:36:54Z |
| format | Article |
| id | doaj.art-472785f791c44e48a4cdaf47ef3af95b |
| institution | Directory Open Access Journal |
| issn | 0019-5154 1998-3611 |
| language | English |
| last_indexed | 2024-03-13T10:36:54Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Dermatology |
| spelling | doaj.art-472785f791c44e48a4cdaf47ef3af95b2023-05-18T05:46:28ZengWolters Kluwer Medknow PublicationsIndian Journal of Dermatology0019-51541998-36112023-01-0168220020410.4103/ijd.IJD_706_20Tuberous sclerosis complex—varied presentations in family clustersAyush SoporiSeema SharmaKavya SharmaMilap SharmaTuberous 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.http://www.e-ijd.org/article.asp?issn=0019-5154;year=2023;volume=68;issue=2;spage=200;epage=204;aulast=Soporiangiofibromaash leaf maculesrhabdomyoma |
| spellingShingle | Ayush Sopori Seema Sharma Kavya Sharma Milap Sharma Tuberous sclerosis complex—varied presentations in family clusters Indian Journal of Dermatology angiofibroma ash leaf macules rhabdomyoma |
| title | Tuberous sclerosis complex—varied presentations in family clusters |
| title_full | Tuberous sclerosis complex—varied presentations in family clusters |
| title_fullStr | Tuberous sclerosis complex—varied presentations in family clusters |
| title_full_unstemmed | Tuberous sclerosis complex—varied presentations in family clusters |
| title_short | Tuberous sclerosis complex—varied presentations in family clusters |
| title_sort | tuberous sclerosis complex varied presentations in family clusters |
| topic | angiofibroma ash leaf macules rhabdomyoma |
| url | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2023;volume=68;issue=2;spage=200;epage=204;aulast=Sopori |
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