History and exam

Key diagnostic factors

common

small intestinal obstruction

This is the initial presentation in 43% of cases.[20] In >95% of patients the small bowel is affected.[20]

mucocutaneous pigmentation

Present in about 95% of cases.[20] Occurs most commonly on the vermillion border of the lips (94%), buccal mucosa (66%), hands (74%), and feet (62%), but has also been reported in the periorbital, perianal, and genital areas.[20]

Typically manifests as small, dark brown or blue-brown macules in infancy that often fade in late adolescence. The buccal lesions usually persist.[17][Figure caption and citation for the preceding image starts]: Characteristic pigmentation present on lips and buccal mucosaFrom the collection of Dr Carol A. Burke, used with permission [Citation ends].com.bmj.content.model.Caption@64c20509

Other diagnostic factors

common

abdominal discomfort and distension

Abdominal discomfort and distension are common symptoms of Peutz-Jeghers syndrome. Polyp growth begins in childhood by age 10 years, with most experiencing symptoms such as bleeding, abdominal pain, intussusception, or obstruction by age 18 years.[18]

abdominal pain

Initial presentation in 23% of patients.[20] Polyp growth begins in childhood by age 10 years, with most experiencing symptoms such as bleeding, abdominal pain, intussusception, or obstruction by age 18 years.[18]

uncommon

gastrointestinal bleeding

Initial presentation in 14% of patients.[20] Polyp growth begins in childhood by age 10 years, with most experiencing symptoms such as bleeding, abdominal pain, intussusception, or obstruction by age 18 years.[18]

polyp prolapse per anus

Initial presentation in 7% of patients.[20]

enlarged testicles (without masses)

May suggest an underlying testicular tumor. Boys with Peutz-Jeghers syndrome are at risk for Sertoli cell tumors that can cause gynecomastia and other signs of hyperestrogenism and occasionally virilization and/or accelerated height growth.[18] The average age of diagnosis for testicular cancer is 9 years, with a range of 3-20 years.[21]

bilateral gynecomastia

May suggest an underlying Sertoli cell tumor.

fatigue

Due to anemia with colonic polyps.

pallor

Due to anemia with colonic polyps.

Risk factors

strong

positive family history

Peutz-Jeghers syndrome (PJS) is inherited in an autosomal-dominant fashion in most patients. Each child of an affected parent has a 50% chance of inheriting PJS. Approximately 25% of patients newly diagnosed with PJS have de novo mutations.[8]

germline STK11 gene mutation

Germline STK11 mutations cause Peutz-Jeghers syndrome and are detectable in 94% of people with the disorder.[3] Small and large deletions, insertions, splice site, and missense mutations in the STK11 gene have all been reported.[6][7]

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