AI Article Synopsis

  • Peutz-Jeghers syndrome (PJS) is a rare genetic disorder marked by gastrointestinal polyps, skin changes, and a higher likelihood of developing cancer.
  • A 16-month-old child diagnosed with PJS displayed unique symptoms and types of cancer not previously documented in other cases.
  • This report is significant for being the first to link PJS with adrenocortical carcinoma and thyroid cancer in a child, and it discusses recent advancements in understanding the syndrome.

Article Abstract

Peutz-Jeghers syndrome (PJS) is a rare, dominantly inherited disorder characterized by gastrointestinal hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. We present a 16-month-old child diagnosed with PJS, who had distinguishing features compared with the previously reported cases with respect to her clinical presentation, associated malignancies, and genetic analysis. To our knowledge, this is the first report of adrenocortical carcinoma in association with PJS, as well as the first instance of associated thyroid cancer in a child with PJS. We briefly review the relevant literature and highlight the recent progress achieved in the investigation of the syndrome.

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Source
http://dx.doi.org/10.1016/j.jpedsurg.2011.01.005DOI Listing

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