Peutz–Jeghers Syndrome: Definition, Etiology, Clinical features, Differential diagnosis, Treatment

September 20, 2011 | By | Reply More

PeutzJeghers Syndrome: Definition, Etiology, Clinical features, Differential diagnosis, Treatment

Definition: Peutz–Jeghers syndrome is a rare genetically transmitted disorder, characterized by mucocutaneous pigmentation and intestinal polyposis.

Etiology:  Inherited as an autosomal dominant trait.

Clinical features:

  • The oral manifestations are the most important diagnostic findings, and consist of oval or round, brown or black macules or spots, 1–10 mm in diameter.
  • The perioral skin, lips, buccal mucosa, and tongue are the most common sites affected.
  • The skin lesions consist of numerous, usually perioral, dark spots.
  • Intestinal polyps (hamartomas) are constant findings, usually in the jejunum and ileum.

Laboratory tests: 

  • Histopathological examination,
  • radiography of the gastrointestinal tract.

Differential diagnosis:

  • Ephelides,
  • lentigo,
  • normal pigmentation,
  • Addison disease.

Treatment: Supportive; surgical intervention in some cases.

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Category: Dental, Oral Pathology, Oral Surgery

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