Skin Spots and a Twisted Bowel

A 45-year-old man presents with acute Abdominal pain. Discover how hyperpigmented spots on his lips and a family history lead to a rare genetic diagnosis.

Peutz–Jeghers syndrome


A 45-year-old man presented to the emergency department with sudden-onset abdominal pain and vomiting. On physical examination, his abdomen was diffusely tender, and he had hyperpigmented macules on the lips, oral mucosa, and nose. What is the most likely underlying diagnosis?

What is the most likely diagnosis?

Peutz–Jeghers syndrome
Henoch–Schönlein purpura
Syphilis
Melanoacanthoma
Crohn’s disease

Gastrointestinal Polyposis, Hamartoma, Intussusception, Mucocutaneous Hyperpigmentation, Peutz–Jeghers syndrome

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