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Novel PTEN mutation in Cowden syndrome: case report with late diagnosis and non-malignant course

  • Author(s): Martínez-Doménech, Alvaro
  • García-Legaz Martínez, Marta
  • Magdaleno-Tapial, Jorge
  • Pérez-Pastor, Gemma
  • Rodríguez-López, Raquel
  • Pérez-Ferriols, Amparo
  • et al.
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Public License
Abstract

Cowden syndrome (CS) is an infrequent genodermatosis caused by mutations in the phosphatase and tensin homolog (PTEN) gene in the majority of cases. As such, it belongs to the PTEN hamartoma tumor syndrome spectrum. This disease has a variable clinical expression characterized by the development of multiple hamartomatous tumors in different organs, usually during the second and third decades of life, and a high cumulative risk of several malignancies. We present a case of Cowden syndrome with late diagnosis presenting with a florid dermatological expression and multiple benign tumors, but no malignancies. A novel PTEN mutation was identified.

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