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The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis


Hofbauer, G F L; Marcollo-Pini, A; Corsenca, A; Kistler, A D; French, L E; Wüthrich, R P; Serra, A L (2008). The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis. British Journal of Dermatology, 159(2):473-475.

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with an incidence of approximately one in 6000. It arises from a genetic abnormality involving either the TSC1 gene on chromosome 9 or the TSC2 gene on chromosome
16. The protein product of TSC1 is hamartin and that of TSC2 is tuberin. In cells, hamartin and tuberin form a complex which inhibits the mammalian target
of rapamycin (mTOR), a central controller of cell growth and proliferation. Angiofibroma affects 70–80% of patients with TSC, typically on the face. We report a patient with TSC with recurrent life-threatening haemorrhage from both
kidneys due to extensive angiomyolipoma formation leading to bilateral nephrectomy and renal transplantation. Immunosuppressive treatment with rapamycin, a
specific mTOR inhibitor, initiated because of renal transplantation, reduced facial angiofibroma dramatically.

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with an incidence of approximately one in 6000. It arises from a genetic abnormality involving either the TSC1 gene on chromosome 9 or the TSC2 gene on chromosome
16. The protein product of TSC1 is hamartin and that of TSC2 is tuberin. In cells, hamartin and tuberin form a complex which inhibits the mammalian target
of rapamycin (mTOR), a central controller of cell growth and proliferation. Angiofibroma affects 70–80% of patients with TSC, typically on the face. We report a patient with TSC with recurrent life-threatening haemorrhage from both
kidneys due to extensive angiomyolipoma formation leading to bilateral nephrectomy and renal transplantation. Immunosuppressive treatment with rapamycin, a
specific mTOR inhibitor, initiated because of renal transplantation, reduced facial angiofibroma dramatically.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Nephrology
04 Faculty of Medicine > University Hospital Zurich > Dermatology Clinic
Dewey Decimal Classification:610 Medicine & health
Uncontrolled Keywords:angiofibroma • mTOR • rapamycin • tuberous sclerosis
Language:English
Date:2008
Deposited On:06 Jan 2009 09:50
Last Modified:06 Dec 2017 16:17
Publisher:Wiley-Blackwell
ISSN:0007-0963
Additional Information:Author Posting. © The Authors 2009 This is the author's version of the work. It is posted here for personal use, not for redistribution. The definitive version was published in British Journal of Dermatology 159(2), 473-475. http://dx.doi.org/10.1111/j.1365-2133.2008.08677.x
Publisher DOI:https://doi.org/10.1111/j.1365-2133.2008.08677.x
PubMed ID:18547304

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