Peutz–Jeghers 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.
- 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.
- Histopathological examination,
- radiography of the gastrointestinal tract.
- normal pigmentation,
- Addison disease.
Treatment: Supportive; surgical intervention in some cases.