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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CME Disclosure Statement: Unless noted, all individuals in control of content reported no relevant financial relationships. If applicable, all relevant financial relationships have been mitigated.
Corresponding Author: Eri Sato, MD, Tokyo Metropolitan Tama Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8524, Japan (firstname.lastname@example.org).
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.
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