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Keywords:

  • Noonan syndrome;
  • LEOPARD syndrome;
  • lipomatosis;
  • Noonan syndrome–Multiple Lentigines;
  • PTPN11;
  • rasopathy

Abstract

Noonan syndrome (NS) is a tumor predisposing disorder. Leukemia is observed in 1–3% of patients with NS, with rare occurrences of solid tumors. It also appears to predispose to non-malignant tumors. We report on a 26-year-old female with features of Noonan syndrome–Multiple Lentigines and a heterozygous mutation: c.1517A > C–p.Gln506Pro in the PTPN11 gene. The patient developed an unusual extensive lipomatosis and we discuss possible relationship between her lipomatosis and NS. © 2012 Wiley Periodicals, Inc.