Rapamycin therapy for renal, brain, and skin lesions in a tuberous sclerosis patient.
Tuberous sclerosis complex (TSC) is an inherited multisystem disorder; it may involve kidney, brain, skin, lungs, and liver. We report a 37-year-old female TSC patient presenting with skin lesions (angiofibromas, molluscum pendulum). Radiologic examination revealed additional brain and renal lesions consisting of tumors, cysts, and angiomyolipomas. Treatment with rapamycin disclosed improvement in skin lesions. The number and volume of angiofibromas and molluscum pendulum reduced progressively in 6 months. During the ninth month of treatment, magnetic resonance imaging was repeated for renal and brain lesions. Imaging results showed reduction in tumor and angiomyolipoma volumes. Oral rapamycin therapy can improve renal, brain, and skin lesions in TSC disease. Therefore, it may be an alternative therapy for TSC patients.
Micozkadioglu
Hasan
H
Department of Nephrology, Baskent University School of Medicine, Baskent University Adana Teaching and Research Hospital, Yuregir-Adana, Turkey. hasanmicoz@hotmail.com
Koc
Zafer
Z
Ozelsancak
Ruya
R
Yildiz
Ismail
I
D000328:Adult; D018322:Angiofibroma / Q000188:drug therapy / Q000209:etiology; D001932:Brain Neoplasms / Q000188:drug therapy* / Q000209:etiology; D005153:Facial Neoplasms / Q000188:drug therapy; D005260:Female; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D007680:Kidney Neoplasms / Q000188:drug therapy* / Q000209:etiology; D008279:Magnetic Resonance Imaging; D020123:Sirolimus / Q000627:therapeutic use*; D012878:Skin Neoplasms / Q000188:drug therapy* / Q000209:etiology; D014402:Tuberous Sclerosis / Q000150:complications*
D007166:Immunosuppressive Agents; D020123:Sirolimus