Beyond polycystic kidney disease

BMJ Case Rep. 2017 Oct 4:2017:bcr2017220766. doi: 10.1136/bcr-2017-220766.


Tuberous sclerosis(TS) is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes. TSC2 gene is located in chromosome 16p13.3, adjacent to PKD1 gene, responsible for the autosomal dominant polycystic kidney disease. In a rare subgroup of patients, the presence of a deletion which simultaneously affects the TSC2 and PKD1 genes has been confirmed. TSC2/PKD1-Contiguous Gene Syndrome is characterised by the early appearance of autosomal dominant polycystic kidney disease in combination with several phenotypic manifestations of TS. We present a 13-year-old girl with bilateral renal cysts detected at the age of 9 months. At the age of 13, she was referred to the Dermatology Outpatients Clinic due to a facial cutaneous eruption. She presented with facial erythema, fibroadenomas with malar distribution and disseminated hypomelanotic macules, meeting the criteria for TS. TSC2/PKD1 Contiguous Gene Syndrome deletion was suspected, being later confirmed by genetic testing.

Keywords: dermatology; genetics; neuroimaging; renal medicine.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Diagnosis, Differential
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Polycystic Kidney, Autosomal Dominant / diagnosis*
  • Polycystic Kidney, Autosomal Dominant / diagnostic imaging
  • Polycystic Kidney, Autosomal Dominant / genetics
  • Tuberous Sclerosis / diagnosis*
  • Tuberous Sclerosis / diagnostic imaging
  • Tuberous Sclerosis / genetics