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

Br J Dermatol. 2008 Aug;159(2):473-5. doi: 10.1111/j.1365-2133.2008.08677.x. Epub 2008 Jun 28.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Angiofibroma / drug therapy*
  • Angiofibroma / etiology
  • Angiofibroma / pathology
  • Antibiotics, Antineoplastic / therapeutic use
  • Facial Neoplasms / drug therapy*
  • Facial Neoplasms / etiology
  • Facial Neoplasms / pathology
  • Female
  • Humans
  • Protein Kinase Inhibitors / therapeutic use
  • Protein Kinases / physiology
  • Sirolimus / therapeutic use*
  • Skin Neoplasms / drug therapy*
  • Skin Neoplasms / etiology
  • Skin Neoplasms / pathology
  • TOR Serine-Threonine Kinases
  • Tuberous Sclerosis / complications*

Substances

  • Antibiotics, Antineoplastic
  • Protein Kinase Inhibitors
  • Protein Kinases
  • MTOR protein, human
  • TOR Serine-Threonine Kinases
  • Sirolimus