Peutz-Jeghers syndrome is best described as which of the following?

Peutz-Jeghers syndrome is best described as which of the following?

• A. A rare genetic disorder characterized by mucocutaneous pigmented spots and hamartomatous GI polyps with increased cancer risk.
• B. A skin condition caused by viral infection.
• C. An autoimmune gastritis.
• D. A vascular malformation syndrome.

Answer: (B)

Peutz-Jeghers syndrome is a hereditary disorder characterized by mucocutaneous pigmented spots and hamartomatous polyps throughout the gastrointestinal tract, with a markedly increased risk of various cancers. The pigmented macules, especially around the lips and in the mouth, are a hallmark visible sign, while the GI polyps can lead to abdominal pain, bleeding, and intussusception. It’s caused by a mutation in a tumor suppressor gene (STK11/LKB1) and is typically inherited in an autosomal dominant pattern. This combination of distinctive skin markings, hamartomatous GI polyps, and elevated cancer risk distinguishes it from conditions described as a viral skin infection, autoimmune gastritis, or vascular malformation syndromes.

Peutz-Jeghers syndrome is a hereditary disorder characterized by mucocutaneous pigmented spots and hamartomatous polyps throughout the gastrointestinal tract, with a markedly increased risk of various cancers. The pigmented macules, especially around the lips and in the mouth, are a hallmark visible sign, while the GI polyps can lead to abdominal pain, bleeding, and intussusception. It’s caused by a mutation in a tumor suppressor gene (STK11/LKB1) and is typically inherited in an autosomal dominant pattern. This combination of distinctive skin markings, hamartomatous GI polyps, and elevated cancer risk distinguishes it from conditions described as a viral skin infection, autoimmune gastritis, or vascular malformation syndromes.