History and exam

Key diagnostic factors

common

presence of risk factors

Key risk factors include presence of a germline STK11 gene mutation and a family history of PJS.

small intestinal obstruction

This is the presenting complaint in 43% of cases.[15] In >95% of patients the small bowel is affected.[15]

mucocutaneous pigmentation

Present in about 95% of cases.[15] 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 peri-orbital, peri-anal, and genital areas.[15]

Typically manifests as small, dark brown or blue-brown macules in infancy that may fade in late adolescence. The buccal lesions usually persist.[13][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@6741783f

Other diagnostic factors

common

abdominal discomfort and distension

Abdominal discomfort and distension are common symptoms of PJS. 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.[14]

abdominal pain

Presenting complaint in 23% of patients.[15] 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.[14]

uncommon

gastrointestinal bleeding

Presenting complaint in 14% of patients.[15] 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.[14]

polyp prolapse per anus

Presenting complaint in 7% of patients.[15]

enlarged testicles (without masses)

May suggest an underlying testicular tumour. Boys with PJS are at risk for Sertoli cell tumours that can cause gynaecomastia and other signs of hyperoestrogenism and occasionally virilisation and/or accelerated height growth.[14] The average age of diagnosis for testicular cancer is 9 years, with a range of 3 to 20 years.[16]

bilateral gynaecomastia

May suggest an underlying Sertoli cell tumour.

fatigue

Due to anaemia with colonic polyps.

pallor

Due to anaemia with colonic polyps.

Risk factors

strong

positive family history

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 newly diagnosed PJS patients represent de novo mutations.[4]

germline STK11 gene mutation

Germline STK11 mutations cause PJS and are detectable in 94% of people with the disorder.[5] Small and large deletions, insertions, splice site, and missense mutations in the STK11 gene have all been reported.[2][3]

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