Peutz-Jeghers syndrome physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hamid Qazi, MD, BSc [2]

Overview

Common physical examination findings of Peutz-Jeghers syndrome include mucocutaneous hyperpigmentation, abdominal tenderness due to intussusception, bowel obstruction, and pallor due to anemia.

Physical Examination

The physical exam findings are as follows:

Appearance of the Patient

• Cachexia may be suggestive of cancer.

Vitals

• Fever

• Tachypnea

Skin

• Patches of hyperpigmentation on the hands and feet
• Jaundice may be suggestive of pancreatic cancer

Eyes

• Icteric sclera

Throat

• Oral mucosa

• Mucocutaneous pigmentation causing patches of hyperpigmentation in the oral mucosa (gingiva, hard palate, buccal mucosa, and labial mucosa)

Neck

• Lymphadenopathy

Lungs

• If lung cancer develops, the patient may present with the following:

• Wheezing
• Consolidation with reduced breath sounds on auscultation
• Rales
• Egophony
• Chest movement may be asymmetric

Abdomen

• Abdominal distention
• Abdominal tenderness
• Rebound tenderness
• An acute abdomen may be suggestive of intussusception
• An abdominal mass may be suggestive of hepatic or pancreatic cancer
• Guarding
• Hepatomegaly may be suggestive of hepatic cancer

Extremities

• Patches of hyperpigmentation on the hands and feet
• Clubbing may be suggestive of lung cancer
• Cyanosis may be suggestive of lung cancer

Hyperpigmentation - Source: By Abdullah Sarhan (Own work), Wikimedia Commons