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The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis
Author(s) -
Hofbauer G.F.L.,
MarcolloPini A.,
Corsenca A.,
Kistler A.D.,
French L.E.,
Wüthrich R.P.,
Serra A.L.
Publication year - 2008
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2008.08677.x
Subject(s) - tuberous sclerosis , tsc1 , tsc2 , sirolimus , angiomyolipoma , medicine , cancer research , transplantation , everolimus , discovery and development of mtor inhibitors , pi3k/akt/mtor pathway , renal cell carcinoma , angiofibroma , pathology , biology , kidney , genetics , apoptosis
Summary 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.