Use these 4 criteria to make the diagnosis
The diagnosis of PJS is made using the following criteria: (1) two or more histologically confirmed PJS polyps, (2) any number of PJS polyps and a family history of PJS, (3) characteristic mucocutaneous pigmentation and a family history of PJS, or (4) any number of PJS polyps and characteristic mucocutaneous pigmentation.2
When PJS is suspected, the entire GI tract should be investigated. The hamartomatous polyps may be found from the stomach to the anal canal, but the small bowel most commonly is involved. The polyps may occur in early childhood, with one study of 14 children reporting a median age of 4.5 years.5 Polyp biopsy will show smooth muscle arborization. When possible, those who meet clinical criteria for PJS should undergo genetic testing for a STK11 gene mutation. PJS may occur due to de novo mutations in patients with no family history.6
Long-term management involves surveillance for polyps and cancer
Screening guidelines for polyps vary. Some suggest starting screening at age 8 to 10 years with esophagogastroduodenoscopy or capsule endoscopy and if negative, colonoscopy at age 18. Others suggest starting screening at 4 to 5 years of age.5 The recommendation is to remove polyps if technically feasible.3 Surveillance for Sertoli cell tumors (sex cord stromal tumors) should be done before puberty, and evaluation of other organs at risk of malignancy should begin by the end of adolescence.
The pigmented macules do not require treatment. Macules on the lips may disappear with time, while those on the buccal mucosa persist. The lip lesions can be lightened with chemical peels or laser.
Our patient underwent laparotomy, which revealed a grossly dilated and gangrenous small bowel segment. Intussusception was not present and was thought to have spontaneously reduced. Resection and anastomosis of the affected small bowel was performed. The patient’s postoperative course was uneventful, and her diarrhea and abdominal pain resolved. We recommended follow-up in her home city with primary care and a GI specialist and explained the need for surveillance of her condition.
CORRESPONDENCE
Josette R. McMichael, MD, Department of Dermatology, Emory University, 1525 Clifton Road NE, 1st Floor, Atlanta, GA 30322; jmcmichael@emory.edu