Every day one disease – Peutz Jeghers Syndrome

Peutz Jeghers Syndrome

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 (Figs. 98). The perioral skin, lips, buccal mucosa, and tongue are the most common sites affected. The skin lesions consist of numerous, usually perioral, dark spots (Fig.100). 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.
 
Every day one disease – Peutz Jeghers Syndrome

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