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 without the classic mucocutaneous pigmentation (melanotic macules), making diagnosis more challenging and requiring heightened clinical awareness during patient assessment
• Adult-onset presentation in the fourth decade of life is atypical for PJS, which typically manifests in childhood or adolescence, emphasizing the need for thorough family history assessment regardless of patient age
• High-grade dysplasia findings in colorectal polyps warrant immediate attention and comprehensive surveillance planning, as PJS patients have significantly elevated cancer risks across multiple organ systems
• Colorectal-predominant polyposis patterns may be the primary presenting feature, requiring nurses to advocate for genetic counseling and comprehensive screening protocols even without typical syndromic features

Clinical Relevance

This case highlights critical implications for endoscopy nurses in patient assessment and care coordination. The absence of pathognomonic pigmentation challenges our traditional understanding of PJS presentation, requiring nurses to maintain high clinical suspicion for hereditary polyposis syndromes based solely on endoscopic findings. During pre-procedure assessments, nurses should thoroughly document family history of gastrointestinal cancers and polyposis syndromes, even in patients presenting later in life without classic physical stigmata. This case emphasizes the importance of detailed skin examination during patient preparation, while recognizing that normal findings do not exclude hereditary syndromes.

The discovery of high-grade dysplasia in this patient underscores the critical role of endoscopy nurses in post-procedure patient education and care coordination. Nurses must be prepared to facilitate urgent referrals to genetic counselors, coordinate multi-disciplinary care involving gastroenterology, surgery, and oncology teams, and provide comprehensive patient education about cancer surveillance requirements. The colorectal-predominant presentation also impacts procedural planning, as these patients may require more frequent surveillance colonoscopies and specialized polyp removal techniques, necessitating extended procedure times and enhanced monitoring protocols.

From a unit operations perspective, this case reinforces the need for standardized protocols for identifying and managing patients with suspected hereditary cancer syndromes. Endoscopy nurses should advocate for systematic documentation tools that capture relevant family history, physical findings, and endoscopic characteristics that might suggest underlying genetic conditions. Additionally, units should establish clear pathways for expedited genetic counseling referrals and coordinate with pathology services to ensure appropriate tissue handling for potential genetic testing.

Bottom Line

Endoscopy nurses must maintain clinical vigilance for Peutz-Jeghers syndrome even in adult patients without characteristic pigmentation, as this case demonstrates that PJS can present atypically with colorectal-predominant polyposis and high-grade dysplasia in the fourth decade of life. The absence of classic mucocutaneous pigmentation should not exclude consideration of hereditary polyposis syndromes, and nurses play a crucial role in comprehensive patient assessment, facilitating appropriate genetic counseling referrals, and coordinating the complex multi-disciplinary care required for these high-risk patients.