Below are images I had taken of a young woman (about 25yrs old). I do not remember what she was admitted for, but if I am not mistaken it was an illness unrelated to Peutz-Jeghers Syndrome (PJD), probably a febrile illness. A colleague of mine asked me if I had seen the circumoral pigmentations of PJD. Fortunately, I had been carrying my Nikon Coolpix 4500 on that day.
PJD is an autosomal dominant disease caused by germline mutations of the gene STK11 (also known as LKB1) located on the short arm of chromosome 19 (19p). It is characterized by mucocutaneous pigmentation, hamartomas of the gastrointestinal tract and a very risk of malignancy. STK11 mutations are not identifiable in about 25% of the patients. These patients are believed to have inactivation of the gene by other mechanisms. About ½ to 1/3rd of the patients have new mutations. The incidence of PJS ranges from 1 in 30,000 to 1:200,000 births
Pigmentation classically involves the lips and buccal mucosa but other areas including hands and feet but may be seen around the nose, orbits anus and genitals. It is caused by melanin. Spots present at birth but may fade with age and adults may not have the spots. About 5% patients do not have pigmentation.
PJS is associated with hamartomatous polyps. Hamartomatous polyps are polyps composed of the normal layers of the intestine but with a markedly distorted architecture. It results from an overgrowth and is not, at least initially, to have a malignant potential. The polyps may be pedunculated or sessile and vary in size from few mm to 3-4 cm. Eighty percent of the patients have jejunal polyps, 40% in the stomach and 40% in the colon. The PJD polyps have no distinctive endoscopic features but can be differentiated from other syndromes by distinctive histopathologic features of arborizing pattern of smooth muscle throughout the polyp. Patients usually present in the second decade of life with abdominal pain, rectal bleeding, anaemia, small intestinal intussusception, bowel obstruction, and rectal prolapse of polyps. Forty to fifty percent of patients need a surgery for polyp related bowel obstruction
From Peutz-Jeghers Syndrome in Familial Cancer Syndromes Editor Douglas L Riegert-Johnson. NCBI 2009
Patients of PJS are at a very high risk of malignancy and the risk is not confined only to the gastrointestinal tract. Almost all patients with PJS will develop a malignancy. PJS increases the risk of small intestinal carcinoma by more than 500 times. The risk of other gastrointestinal cancers, breast cancer, cancer of the uterus and ovary are also increased.
|Cancer||Cumulative Risk*||Relative Risk#|
Data sourced from * Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol. 2006;4:408-415.
# Giardiello FM, et al Very high risk of cancer in familial Peutz–Jeghers syndrome. Gastroenterology. 2000 Dec;119(6):1447-53
PJD is treated by polypectomy that may be performed by intraoperative endoscopy or double balloon endoscopy. There are no recommendations for screening patients. The disease is rare and evolving formal recommendations will be difficult. Given below is a graphic compilation of screening recommendations from sources listed by Giardiello and Trimbat (see table above).
Internet resources for PJS include