Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Facial angiofibroma"'
Autor:
Leena HN, Savitha B Raghavan, Yogesh HR, Sujatha Sowmyanarayan, Amberkar Mohanbabu Vittalrao, Abhineetha Hosthota
Publikováno v:
Perspectives In Medical Research, Vol 12, Iss 1, Pp 45-48 (2024)
Introduction: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder. Facial angiofibromas are the most common cutaneous findings of TSC. Treatment modalities such as laser, surgery, and/or cryotherapy are employed. Topical therapy wi
Externí odkaz:
https://doaj.org/article/d7a1be79927b46179aaae0fac526c216
Publikováno v:
Journal of the Pakistan Medical Association, Vol 73, Iss 11 (2023)
Tuberous Sclerosis Complex (TSC) is a rare autosomal dominant genetic disease caused by a deactivating mutation in one of the two tumour suppressor genes, TSC1 or TSC2.1,2 These mutations can lead to hyperactivation of the mammalian Target of Rapamyc
Externí odkaz:
https://doaj.org/article/0581452e53ba497cb1df7ad9581e2e33
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Facial angiofibroma is the most predominant cutaneous manifestation of tuberous sclerosis complex (TSC), a rare autosomal dominant genetic disorder impacting the mechanistic target of rapamycin (mTOR). Facial angiofibroma can blee
Externí odkaz:
https://doaj.org/article/f6b64bc6197140c8b3d01c834f6d1399
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Abstract Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the appearance of the face
Externí odkaz:
https://doaj.org/article/b3a489e3da63424588307c6c0db8286c
Publikováno v:
Dermatology Practical & Conceptual (2021)
Externí odkaz:
https://doaj.org/article/9a913052767f4285a6b88f3c9bf52224
Publikováno v:
Indian Heart Journal, Vol 65, Iss 1, Pp 84-87 (2013)
A 35-year-old man presented with dilated cardiomyopathy, an unusual association with tuberous sclerosis. Clinical history and examination were consistent with tuberous sclerosis including major features of tuberous sclerosis complex (TSC) like facial
Externí odkaz:
https://doaj.org/article/be50d16c71ae488aac7d4b2a88a22420
Akademický článek
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Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the appearance of the face, and red
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2ce392a777a414b6a506f1c2cc70ae
https://doi.org/10.21203/rs.3.rs-20090/v1
https://doi.org/10.21203/rs.3.rs-20090/v1
Autor:
J Gordon Millichap
Publikováno v:
Pediatric Neurology Briefs, Vol 27, Iss 9, Pp 70-71 (2013)
Investigators at Children's Memorial Health Institute, Warsaw, Poland, report monozygotic twin sisters with tuberous sclerosis complex (TSC), one treated with the mTOR inhibitor everolimus since age 4 years.
Externí odkaz:
https://doaj.org/article/9a3992d3deaa4ae9817bb35f4a5310db
Publikováno v:
Dermatology Practical & Conceptual (2021)
Dermatol Pract Concept
Dermatol Pract Concept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d166e5506b51393b46092168e9158da
https://doi.org/10.5826/dpc.1103a36
https://doi.org/10.5826/dpc.1103a36