Unveiling Peutz-Jeghers Syndrome in the Fourth Decade: A Rare Case of Colorectal-Predominant Polyposis and High-Grade Dysplasia without Pathognomonic Pigmentation

Key Takeaways for GI Nurses

• Peutz-Jeghers syndrome can present in patients over 40 years old without the characteristic mucocutaneous pigmentation, challenging traditional diagnostic assumptions
• Colorectal-predominant polyposis with high-grade dysplasia may be the presenting feature, requiring careful attention to polyp morphology and distribution during endoscopic procedures
• The absence of pathognomonic pigmentation should not rule out PJS consideration, emphasizing the importance of thorough family history collection and genetic counseling referrals
• Enhanced surveillance protocols and meticulous documentation become critical when atypical presentations of hereditary polyposis syndromes are suspected

Clinical Relevance

This case report significantly impacts endoscopy nursing practice by highlighting the diagnostic complexity of hereditary polyposis syndromes. Traditional teaching emphasizes that Peutz-Jeghers syndrome presents early in life with distinctive mucocutaneous pigmentation around the lips, oral cavity, and digits. However, this case demonstrates that PJS can manifest in the fourth decade without these classic dermatologic markers, presenting primarily as colorectal polyposis with high-grade dysplasia. For endoscopy nurses, this underscores the critical importance of comprehensive pre-procedure assessments that include detailed family history documentation and recognition of subtle clinical presentations that may warrant genetic evaluation.

From a procedural standpoint, this case reinforces the necessity for meticulous polyp documentation, including accurate measurement, morphologic description, and precise anatomic localization. When encountering patients with multiple polyps, particularly those with hamartomatous characteristics or unusual distribution patterns, nurses must ensure thorough photodocumentation and consider the potential for hereditary syndromes even in older patients without classic phenotypic features. This may influence post-procedure patient education, follow-up scheduling, and coordination with genetic counseling services.

The identification of high-grade dysplasia in this atypical PJS presentation also emphasizes the heightened cancer surveillance requirements for these patients. Endoscopy nurses must be prepared to implement more intensive monitoring protocols, coordinate multidisciplinary care involving gastroenterology, surgery, and genetics, and provide patient education regarding the implications of hereditary cancer syndromes for both the patient and their family members.

Bottom Line

This case challenges endoscopy nurses to maintain diagnostic vigilance for Peutz-Jeghers syndrome even in middle-aged patients presenting with colorectal polyposis but lacking the characteristic mucocutaneous pigmentation, emphasizing that hereditary polyposis syndromes can have atypical presentations requiring comprehensive assessment, meticulous documentation, and appropriate genetic counseling referrals regardless of patient age or classic phenotypic features.