Polyps and inherited gastrointestinal cancer syndromes: Case

This girl's combination of periumbilical cramping pain, iron-deficiency anaemia, characteristic mucocutaneous pigmentation, a palpable abdominal mass, and a striking family history of early pancreatic and breast cancer makes Peutz-Jeghers syndrome the unifying diagnosis. The dark macules on her lips, buccal mucosa, and fingers are the syndrome's signature, and their fading in late childhood does not lessen the cancer risk. The family history fits the broad, high extraintestinal cancer burden that defines this condition. ^[1]

Clinical findings

The clinical picture is one of symptomatic Peutz-Jeghers small-bowel disease. The cramping central pain and the palpable periumbilical mass raise the concern that a jejunal hamartomatous polyp is acting as a lead point for intussusception, the classic childhood complication of this syndrome and a potential surgical emergency. Her pallor and likely iron deficiency reflect chronic blood loss from the polyps. The cutaneous and family findings complete the bedside diagnosis and direct the investigation toward the small bowel rather than the colon alone. ^[3]