Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines)

Am J Med Genet A. 2012 Jun;158A(6):1406-10. doi: 10.1002/ajmg.a.35329. Epub 2012 Apr 23.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Heterozygote
  • Humans
  • LEOPARD Syndrome / complications*
  • LEOPARD Syndrome / genetics
  • Lipomatosis / complications*
  • Lipomatosis / genetics
  • Lipomatosis / pathology
  • Mutation
  • Noonan Syndrome / complications*
  • Noonan Syndrome / genetics
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics

Substances

  • Protein Tyrosine Phosphatase, Non-Receptor Type 11