A Comprehensive Case Review of Peutz-Jeghers Syndrome: Clinical and Pathological Perspectives

Peutz-Jeghers syndrome is an autosomal dominant disorder characterized by multiple hamartomatous polyps in the stomach, small intestine and colon, together with typical pigmented skin lesions. Skin lesions may appear in early childhood. They are located in the orifices: nose, lips, hands and feet, and in the anal and genital region. Polyps progressively increase in size, and can lead to occlusive complications through invagination, or to severe haemorrhaging when necrosis occurs. Carcinomas have been reported, probably developing from foci of adenomas. Other tumors are observed after the age of 50: testicular cancer, ovarian cysts, breast cancer, sometimes bilateral from the start, pancreatic and biliary cancers. The gene has not yet been identified. Treatment is endoscopic or surgical. Surveillance of subjects at risk is difficult. We report the case of a young patient aged 32, followed since 2018 for a Peutz Jeghers syndrome revealed during a workup of medium-abundance rectal discharge evolving in a context of altered general condition.