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Peutz-Jeghers Syndrome

To identify the key insights or developments described in this article
1 Credit CME

A teenage girl was noted to have multiple dark-brown 1- to 2-mm hyperpigmented macules on the lips, nose (Figure), and conjunctivae that first appeared during infancy. At age 5 years she experienced intussusception that required an emergency laparotomy, which revealed gastrointestinal polyps. Histopathologic examination revealed the polyps to be hamartomatous, containing a tree-like proliferation of smooth muscle. There was no family history of hereditary hamartomatous polyposis syndromes. Given this constellation of features, a diagnosis of Peutz-Jeghers syndrome (PJS) was made. Genetic testing was not pursued given limited availability. She has required periodic colonoscopies to remove new polyps, and at last follow-up, pigmented cutaneous macules remained.

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Article Information

Corresponding Author: Eri Sato, MD, Tokyo Metropolitan Tama Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8524, Japan (lilyfield310@gmail.com).

Published Online: October 5, 2022. doi:10.1001/jamadermatol.2022.3979

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient for granting permission to publish this information.

References
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Beggs  AD , Latchford  AR , Vanes  HF ,  et al.  Peutz-Jeghers syndrome: a systematic review and recommendations for management.   Gut. 2010;59(7):975-986.PubMedGoogle ScholarCrossref
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Boland  CR , Dios  GE , Durno  C ,  et al.  Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the US Multi-Society Task Force on Colorectal Cancer.   Gastroenterology. 2022;162(7):2063-2085.PubMedGoogle ScholarCrossref
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Remington  BK , Remington  TK .  Treatment of facial lentigines in Peutz-Jeghers syndrome with an intense pulsed light source.   Dermatol Surg. 2002;28(11):1079-1081.PubMedGoogle ScholarCrossref
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