Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6218082 | Journal of Pediatric Surgery | 2011 | 4 Pages |
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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Authors
Åule Yalçin, Elif Kirli, Arbay O. Ciftci, İbrahim Karnak, Nicoletta Resta, Rosanna Bagnulo, Zuhal Akçören, Diclehan Orhan, Mehmet Emin Åenocak,