Tuberous sclerosis and fulminant lupus in a young woman

Namrata Singh, Mark Birkenbach, Tiffany Caza, Andras Perl, Philip L. Cohen

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Tuberous sclerosis is an autosomal dominant disorder characterized by involvement of skin, nervous system, kidneys, and lungs. It results from mutations in 1 of 2 genes: TSC1 (encoding hamartin) or TSC2 (encoding tuberin), leading to dysregulation and activation of the mammalian target of rapamycin (mTOR) pathway. Constitutive activation of mTOR signaling has recently been reported in systemic lupus erythematosus (SLE), and inhibition of this pathway may benefit patients with SLE nephritis. We report a case of a young woman with tuberous sclerosis who developed fulminant SLE, with lower extremity edema, massive proteinuria, and class IV lupus glomerulonephritis. She died despite treatment with high-dose steroids, plasmapheresis, and cyclophosphamide. Although there are no prior reports of coexistence of these 2 rare diseases, this case is of considerable interest because of the possibility that activation of mTOR by the TSC mutations may have led to activation of the immune system and the development of unusually severe SLE.

Original languageEnglish (US)
Pages (from-to)134-137
Number of pages4
JournalJournal of Clinical Rheumatology
Issue number3
StatePublished - Apr 2013


  • MTOR
  • Rapamycin
  • Systemic lupus erythematosus
  • Tuberous sclerosis

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