Peutz-Jeghers syndrome

Peutz–Jeghers syndrome is an inherited autosomal dominant condition with mutations in serine/threonine kinase 11 (STK11) and characterised by gastrointestinal polyps in association with pigmentation affecting skin and mucous membranes, and an increased risk for specific cancers.

This chapter provides a very brief overview of this condition and is set out as follows:

• Discrete dark brown to blue-black macules 1-5 mm in diameter, mainly around the oral, nasal and ocular orifices. The lips, especially the lower, have pigmented macules in about 98% of patients, lesions cross the vermilion border. Pigmentation usually appears before 5 years of age and may fade after puberty

• Oral brown-black macules, unlike the circumoral lesions, do not fade after puberty

• Pigmented macules may also arise on the hands and feet, and anogenital surfaces  

• Intestinal polyps occur later on in life and are rare in childhood. They are mainly found in the small intestine and rarely undergo malignant change but if they produce intussusception, surgical intervention is required. There is a slightly increased risk of gastrointestinal carcinoma and carcinomas of the pancreas, breast and reproductive organs 

• The main aspect of management is surveillance of the gastrointestinal tract and other organs 

• Skin lesions may become lighter with good UV protection. Ruby and argon lasers have been used to treat the pigmentation of the lips and oral mucosa