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

**Authors:** Naznin Naher, Abdullah Al Masud, Sunil Kumar Biswas, Hasan IMAM, Md Nazmul Hasan

PMC · DOI: 10.7759/cureus.78520 · Cureus · 2025-02-04

## TL;DR

This paper describes a case of Peutz-Jeghers Syndrome in a young woman presenting with anemia and a large colonic polyp.

## Contribution

The novelty lies in presenting a rare clinical case of PJS with specific symptoms and complications in a young patient.

## Key findings

- The patient exhibited iron-deficiency anemia and a giant colonic polyp.
- Symptoms included intermittent abdominal pain and rectal bleeding.
- The case highlights the importance of routine screening for PJS-related complications.

## 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.

## Linked entities

- **Diseases:** Peutz-Jeghers Syndrome (MONDO:0008280), iron-deficiency anaemia (MONDO:0001356)

## Full-text entities

- **Diseases:** Giant Colonic Polyp (MESH:D003111), polyposis (MESH:D044483), Iron-Deficiency Anaemia (MESH:D000090463), gastrointestinal bleeding (MESH:D006471), autosomal dominant disorder (MESH:D030342), cancers (MESH:D009369), hamartomatous polyps (MESH:D011127), PJS (MESH:D010580), bleeding (MESH:D006470), mucocutaneous pigmentation (MESH:D010859), anaemia (MESH:D000743), intestinal and extraintestinal malignancies (MESH:D007414), abdominal pain (MESH:D015746)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11885176/full.md

## References

17 references — full list in the complete paper: https://tomesphere.com/paper/PMC11885176/full.md

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Source: https://tomesphere.com/paper/PMC11885176