The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis.
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.
Hofbauer
G F L
GF
Department of Dermatology, University Hospital, Zurich, Switzerland. hofbauer@usz.ch
Marcollo-Pini
A
A
Corsenca
A
A
Kistler
A D
AD
French
L E
LE
Wüthrich
R P
RP
Serra
A L
AL
D000293:Adolescent; D018322:Angiofibroma / Q000188:drug therapy* / Q000209:etiology / Q000473:pathology; D000903:Antibiotics, Antineoplastic / Q000627:therapeutic use; D005153:Facial Neoplasms / Q000188:drug therapy* / Q000209:etiology / Q000473:pathology; D005260:Female; D006801:Humans; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use; D011494:Protein Kinases / Q000502:physiology; D020123:Sirolimus / Q000627:therapeutic use*; D012878:Skin Neoplasms / Q000188:drug therapy* / Q000209:etiology / Q000473:pathology; D058570:TOR Serine-Threonine Kinases; D014402:Tuberous Sclerosis / Q000150:complications*
D000903:Antibiotics, Antineoplastic; D047428:Protein Kinase Inhibitors; D011494:Protein Kinases; C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases; D020123:Sirolimus