Peutz-Jeghers Syndrome

Key Points
Rare, hereditary condition which typically affects the skin and mucous membranes
Caused by a genetic mutation, which can be hereditary or spontaneous
Cutaneous symptoms consist of spots which hyperpigmented and may be black, brown or tan in color

Peutz-Jeghers syndrome is a rare, hereditary condition which typically affects the skin and/or mucous membranes. It may also involve the GI tract later in life. Cutaneous symptoms consist of small, hyperpigmented spots of skin, called macules, which may be blueblack, dark brown or tan in color. Lesions typically appear around the mouth, lips, interior of the mouth, inside of the eyelid, and hands/feet. Lesions may also appear around the anal and genital areas. Lesions typically appear in early childhood and in some cases may resolve after puberty. GI tract symptoms may include polyps which are accompanied by pain and bleeding, and have an increased risk of malignancy.

Peutz-Jeghers syndrome is caused by a genetic mutation, which may be hereditary or develop spontaneously in some cases. The condition is autosomal dominant, and affected persons have a 1 in 2 chance of passing the condition on to their own children.

Differential Diagnosis (Other conditions with similar appearance)
Laugier-Hunziker syndrome
Bannayan-Riley-Ruvalcaba syndrome
Cronkhite-Canada Syndrome
Familial adenomatous polyposis
Gardner syndrome
Juvenile polyposis syndrome

Diagnosis
Key Points
Initial diagnosis based on the characteristic appearance of lesions
Laboratory and exploratory testing may be performed to confirm diagnosis

Peutz-Jeghers syndrome is initially diagnosed based on the characteristic appearance of pigmented lesions. Laboratory testing and endoscopy may be performed to confirm diagnosis by confirming the presence of lesions.

Treatment
No specific treatment exists
Goal of treatment is to prevent complications and to watch for potential cancerous conditions
Affected persons have a very high risk of developing various internal cancers
*Mortality rate of those who develop cancer associated with Peutz-Jeghers syndrome is approximately 50%

No specific treatment for Peutz-Jeghers syndrome exists. The goal of treatment is to prevent complications occurring as a result of GI symptoms and to watch for potential cancerous conditions, as affected persons have a very high risk of developing various internal cancers not limited to the GI tract. Statistically, the mortality rate of persons who develop cancer associated with the condition is approximately 50%. Regular laboratory and physical examination is key in detecting these cancers early, which will be treated accordingly. Additionally, health care professionals may remove polyps which cause blockages or other complications. Cutaneous symptoms do not typically require care, but may be disguised cosmetically.