A 22-year-old man comes to the physician after an episode of bloody stool 3 weeks earlier. He has had similar episodes in the past with no intervention, but the last time he went to the emergency department. After initial evaluation and laboratory workup, he was discharged with outpatient follow-up. The patient has no other medical problems and takes no medications. He was adopted at a young age. He smokes 1 pack of cigarettes a day but does not use alcohol or illicit drugs.
Physical examination shows multiple brown spots on the lips and buccal mucosa. The abdominal examination is unremarkable. Rectal examination reveals brown stool with no hemorrhoids or perianal lesions.
Which of the following conditions is this patient at the highest risk of developing?

Question

A 22-year-old man comes to the physician after an episode of bloody stool 3 weeks earlier.  He has had similar episodes in the past with no intervention, but the last time he went to the emergency department.  After initial evaluation and laboratory workup, he was discharged with outpatient follow-up.  The patient has no other medical problems and takes no medications.  He was adopted at a young age.  He smokes 1 pack of cigarettes a day but does not use alcohol or illicit drugs.
Physical examination shows multiple brown spots on the lips and buccal mucosa.  The abdominal examination is unremarkable.  Rectal examination reveals brown stool with no hemorrhoids or perianal lesions.
Which of the following conditions is this patient at the highest risk of developing?

Quizplus · Accepted Answer

This patient with mucocutaneous pigmentation (melanin spots) and history of bloody stools likely has Peutz-Jeghers syndrome (PJS). PJS is a rare autosomal dominant disorder with multiple hamartomatous gastrointestinal tract polyps and pigmented mucocutaneous papules. It has no racial predilection and occurs with equal frequency in men and women. Skin lesions are present in 95% of patients at birth and manifest as flat, gray-to-brown spots measuring about 1-5 mm that are usually located on the lips, perioral area, buccal mucosa, hands, and feet. They can be differentiated from freckles, which are not present at birth and do not occur on the buccal mucosa. These pigmented lesions are benign and malignant transformation is very rare. Gastrointestinal polyps range in size (0.1-5 cm), number (1-20), and type (eg, sessile and pedunculated). They are found in the small intestine, colon, stomach, and rectum. Patients usually present at age 10-30 years with symptoms such as obstruction (intussusception or occlusion of the lumen by a polyp), abdominal pain, or rectal bleeding. Risk of malignancy is increased in patients with PJS for both gastrointestinal (eg, colorectal, stomach, small bowel, and pancreas) and non-gastrointestinal (eg, lung, testicular, breast, and ovary) cancers. Aggressive surveillance for these cancers is recommended. (Choices A, C, D, and E) Patients with PJS are not at increased risk of developing chronic pancreatitis, liver cirrhosis, perirectal fistulas, or polycystic kidneys. Perirectal fistulas are most common in patients with Crohn's disease, radiation proctitis, and lymphogranuloma venereum. Educational objective: Peutz-Jeghers syndrome is a rare autosomal dominant disorder with multiple hamartomatous gastrointestinal tract polyps, pigmented mucocutaneous papules, and increased risk of malignancy (both gastrointestinal and non-gastrointestinal). Increased surveillance for malignancy is recommended and includes colonoscopy starting at age 18, upper endoscopy and small-bowel series starting at age 8, early mammograms, and testicular examination in boys under age 12. __________ References: Peutz-Jeghers syndrome and management recommendations. (http://www.ncbi.nlm.nih.gov/pubmed/16616343) Small bowel endoscopy and Peutz-Jeghers syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/22704569) Case studies in the diagnosis and management of Peutz-Jeghers syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/21503748)

A 22-Year-Old Man Comes to the Physician After an Episode