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Peutz-Jeghers syndrome

A 10 years old girl presents with multiple pigmented macules on the vermilion border of her lower lip.The dark brown lesions are 2–5 mm in size and are arranged in a cluster.The patient’s older brother has similar lesions. The patient complains of recurrent bouts of abdominal pain. the most likely diagnosis is?
  • a.Gardner syndrome
  • b.Herpes simplex virus infection
  • c.Freckles
  • d.Peutz-Jeghers syndrome
  • e.Hand-foot-and-mouth disease

The answer is d.
The most likely diagnosis in this patient is Peutz-Jeghers syndrome (PJS). This is an autosomal dominant polyposis characterized by multiple small macules (lentigines) on the lips and oral membranes. Abdominal symptoms occur because of multiple benign hamartomatous polyps in the small and large bowel and in the stomach. Freckles (ephelides) are lighter lesions due to increased epidermal pigment in the distribution of sun-exposed areas. Gardner’s syndrome is an autosomal dominant disease characterized by facial cysts and adenomatous polyps in the small and large intestines. Herpes simplex virus is characterized by painful vesicles, which are grouped and confluent.
Hand-foot-and-mouth disease is a highly contagious systemic infection
caused by coxsackievirus A16 and characterized by ulcerative oral lesions
and a vesicular exanthem on the distal extremities.

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