Peutz-Jeghers syndrome

Peutz-Jeghers syndrome, often abbreviated PJS, is an autosomal dominant genetic disorder. Its defining features are benign hamartomatous polyps that develop in the gastrointestinal tract and hyperpigmented macules that appear on the lips and the oral mucosa, a pigmentation described as melanosis. Medical references place it among the hereditary intestinal polyposis syndromes and, more broadly, among the hamartomatous polyposis syndromes. Its incidence is given as approximately 1 in 25,000 to 300,000 births, a wide range that reflects how uncertain the true frequency is. Because the condition is inherited in an autosomal dominant pattern, a person with the syndrome can pass it to children. This entry records how the condition is classified and described in reference sources and is not medical advice.