ABSTRACT
INTRODUCTION: Bourneville's tuberous sclerosis or Tuberous Sclerosis Complex (TSC) is an autosomal dominant hereditary phakomatosis associated with angiomyolipomas (AML) of the kidney. The aim of this study was to identify the prevalence of TSC in patients diagnosed and cared for AML in our department of urology. MATERIALS AND METHODS: All the patients with AML were included between March 2009 and June 2016 in a French university hospital. Each patient was reviewed in consultation with a clinical examination and imaging. Specific clinical criteria were used to refer patients to genetic analysis. Patients with a high TSC probability had a genetic analysis to search TSC1 and TSC2 genes mutations. RESULTS: In all, 28 patients were included and 3 (11%) were diagnosed TSC. The median age of the patients was 62 years (36-82 years). The most frequent clinical criteria were facial angiofibromas in 7 patients (25%). Among the 8 patients (29%) with evocative clinical criteria, a mutation of the TSC1 and TSC2 genes was identified in 3 patients (11%) with a diagnosis of TSC made before the AML diagnosis. CONCLUSION: In this study, 8 patients (29%) presented clinical criteria suggestive of TSC, preferentially dermatological. The diagnosis was confirmed by screening TSC1 and TSC2 genes mutations in 3 patients (11%), nevertheless prevalence of TSC is most probably underestimated by the genetic mosaïcisme of this pathology.
