| Literature DB >> 21376213 |
Sule Yalçin1, Elif Kirli, Arbay O Ciftci, Ibrahim Karnak, Nicoletta Resta, Rosanna Bagnulo, Zuhal Akçören, Diclehan Orhan, Mehmet Emin Senocak.
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.Entities:
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Year: 2011 PMID: 21376213 DOI: 10.1016/j.jpedsurg.2011.01.005
Source DB: PubMed Journal: J Pediatr Surg ISSN: 0022-3468 Impact factor: 2.545