EJMCR. 2020; 4(2): 70-74

Peutz-Jeghers syndrome

Authors: Nagina Shahzadi, Nadeem Hashmat, Naureen Kanwal Satti, Lubna Tabassum.

ABSTRACT

Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition presenting with mucocutaneous pigmentation. We report a rare condition of PJS in an 11-year-old female. Case Presentation: An 11-year-old girl, previously healthy and developmentally normal, presented to the emergency department of the hospital with a 1-week history of vomiting and abdominal pain. She was given symptomatic treatment and referred to pediatric gastroenterology for further management and diagnosis based on the physical findings. The examination findings included hyperpigmented macules on fingertips, toes, lips, and oral mucosa. She had a history of rectal polypectomy in the past. Parents were cousins, but there was no significant family history. She was diagnosed as PJS based on her physical findings and multiple gastric polyps on endoscopy. Conclusion: PJS is characterized by mucocutaneous pigmentation and multiple gastrointestinal polyps. Rectal polyp can be a clue to the syndrome even before the appearance of hyperpigmented macules. They need lifelong follow-up because they are prone to gastrointestinal complications and malignancies.

Keywords:
Abdominal pain, gastrointestinal polyps, mucocutaneous hyperpigmentation, Peutz-Jeghers syndrome, intestinal polyposis


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Peutz-Jeghers syndrome


Authors
Nagina Shahzadi
Paediatric Gastroenterology, Children Hospital Faisalabad, Faisalabad, Pakistan
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Nadeem Hashmat
Department of Emergency Medicine, King Saud University, Riyadh, Saudi Arabia
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Naureen Kanwal Satti
Department of Paediatrics, King Saud University, Riyadh, Saudi Arabia
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Lubna Tabassum
Family Medicine Specialist, King Saud University, Riyadh, Saudi Arabia
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Correspondence to:
. Naureen Kanwal Satti, Department of Paediatrics, King Saud University, Riyadh Saudi Arabia.; dresearch18@gmail.com

Publication history
Received 07 Nov 2019
Revised 11 Feb 2020
Accepted 18 Feb 2020
Published online 07 Mar 2020
Published in print 12 Mar 2020

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Pubmed Style

Shahzadi N, Hashmat N, Satti NK, Tabassum L. Peutz-Jeghers syndrome. EJMCR. 2020; 4(2): 70-74. doi:10.24911/ejmcr/173-1573148217


Web Style

Shahzadi N, Hashmat N, Satti NK, Tabassum L. Peutz-Jeghers syndrome. https://www.ejmcr.com/?mno=72808 [Access: March 30, 2020]. doi:10.24911/ejmcr/173-1573148217


AMA (American Medical Association) Style

Shahzadi N, Hashmat N, Satti NK, Tabassum L. Peutz-Jeghers syndrome. EJMCR. 2020; 4(2): 70-74. doi:10.24911/ejmcr/173-1573148217


Vancouver/ICMJE Style

Shahzadi N, Hashmat N, Satti NK, Tabassum L. Peutz-Jeghers syndrome. EJMCR. (2020), [cited March 30, 2020]; 4(2): 70-74. doi:10.24911/ejmcr/173-1573148217


Harvard Style

Shahzadi, N., Hashmat, . N., Satti, . N. K. & Tabassum, . L. (2020) Peutz-Jeghers syndrome. EJMCR, 4 (2), 70-74. doi:10.24911/ejmcr/173-1573148217


Turabian Style

Shahzadi, Nagina, Nadeem Hashmat, Naureen Kanwal Satti, and Lubna Tabassum. 2020. Peutz-Jeghers syndrome. European Journal of Medical Case Reports, 4 (2), 70-74. doi:10.24911/ejmcr/173-1573148217


Chicago Style

Shahzadi, Nagina, Nadeem Hashmat, Naureen Kanwal Satti, and Lubna Tabassum. "Peutz-Jeghers syndrome." European Journal of Medical Case Reports 4 (2020), 70-74. doi:10.24911/ejmcr/173-1573148217


MLA (The Modern Language Association) Style

Shahzadi, Nagina, Nadeem Hashmat, Naureen Kanwal Satti, and Lubna Tabassum. "Peutz-Jeghers syndrome." European Journal of Medical Case Reports 4.2 (2020), 70-74. Print. doi:10.24911/ejmcr/173-1573148217


APA (American Psychological Association) Style

Shahzadi, N., Hashmat, . N., Satti, . N. K. & Tabassum, . L. (2020) Peutz-Jeghers syndrome. European Journal of Medical Case Reports, 4 (2), 70-74. doi:10.24911/ejmcr/173-1573148217


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