Oral manifestations in Peutz-Jeghers syndrome present as_____________?
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Answer: D. None of the above
Explanation
Peutz-Jeghers syndrome presents with perioral and intraoral freckle-like melanotic macules rather than ulcerations. The oral manifestations consist entirely of flat pigmented spots without blistering or glandular hypertrophy. These characteristic mucocutaneous macules typically appear during infancy or early childhood and persist indefinitely. Peutz-Jeghers syndrome is an autosomal dominant inherited disorder caused by mutations in the STK11 tumor suppressor gene. It is characterized clinically by hamartomatous polyps distributed throughout the entire gastrointestinal tract. Affected patients carry a significantly increased lifetime risk for developing various types of gastrointestinal malignancies.
Identifying perioral pigmentation should prompt clinicians to recommend comprehensive gastrointestinal cancer surveillance for the patient. The pigmented macules themselves are completely benign and require no local surgical treatment or excision. Gastrointestinal intussusception caused by large hamartomatous polyps represents a frequent surgical emergency in childhood. Ulcerations of the oral mucosa are characteristic of recurrent aphthous stomatitis or traumatic injuries. Sebaceous glands of the oral mucosa typically correspond to normal anatomic variants known as Fordyce granules. Silver pigmentation is caused by heavy metal ingestion such as argyria rather than this genetic syndrome.
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