Peutz-Jeghers Syndrome Presenting With Iron-Deficiency Anaemia and a Giant Colonic Polyp

Peutz-Jeghers syndrome (PJS) is an uncommon autosomal dominant disorder that manifests as mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal system. Pigmentation of the skin and mucous membranes may be present from birth, but it typically appears in early childhood and can sometimes develop later. In addition to an increased lifelong risk of cancers and problems, such as gastrointestinal bleeding from polyposis, hamartomatous polyps can develop in the stomach, small bowel, or colon. In order to prevent difficulties associated with intestinal and extraintestinal malignancies in patients diagnosed with PJS, routine screening is essential. We report a case of a 19-year-old young girl who presented with intermittent episodes of abdominal pain and a few occasions of fresh per rectal bleeding, as well as features of anaemia.

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Journal
Cureus
Published
2025-02-04
DOI
https://doi.org/10.7759/cureus.78520
Primary Topic
Genetic factors in colorectal cancer
Type
article
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article

Peutz-Jeghers Syndrome Presenting With Iron-Deficiency Anaemia and a Giant Colonic Polyp

Naznin Naher, Abdullah Al Masud, Sunil Kumar Biswas, Hala M. Imam et al.
Cureus
Genetic factors in colorectal cancer
article

Peutz-Jeghers Syndrome Presenting With Iron-Deficiency Anaemia and a Giant Colonic Polyp

Naznin Naher, Abdullah Al Masud, Sunil Kumar Biswas, Hala M. Imam, Md Nazmul Hasan
article en

Abstract

Peutz-Jeghers syndrome (PJS) is an uncommon autosomal dominant disorder that manifests as mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal system. Pigmentation of the skin and mucous membranes may be present from birth, but it typically appears in early childhood and can sometimes develop later. In addition to an increased lifelong risk of cancers and problems, such as gastrointestinal bleeding from polyposis, hamartomatous polyps can develop in the stomach, small bowel, or colon. In order to prevent difficulties associated with intestinal and extraintestinal malignancies in patients diagnosed with PJS, routine screening is essential. We report a case of a 19-year-old young girl who presented with intermittent episodes of abdominal pain and a few occasions of fresh per rectal bleeding, as well as features of anaemia.

CureusVol. 17(2)
Bangladesh Medical University (BD), University of Missouri–St. Louis (US), Saint Louis University (US)
Zero hunger
Openalex Percentile: Top 97%
Genetic factors in colorectal cancer
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