Multiple lentigines syndrome is inherited as an autosomal dominant trait. Affected people have large numbers of lentigines -- present from birth and somewhat darker than true freckles -- as the most obvious sign. These are located mostly on the trunk and neck. Affected people also have wide-set eyes (hypertelorism), prominent ears, nerve deafness (partial), and cafe-au-lait spots (light brown birthmarks).

Additional findings include mild pulmonic stenosis and changes in the ECG (electrocardiogram). Affected people may have abnormal genitalia (cryptorchidism), hypogonadism, or delayed puberty.

• A�family history of multiple lentigines
• Multiple lentigines on neck and trunk (may be on any cutaneous surface)
• Cafe-au-lait spots
• Wide-set eyes (hypertelorism)
• Prominent ears
• Pectus excavatum
• Pectus carinatum (abnormalities of the sternum or breastbone)
• Undescended testicles (cryptorchidism)
• Slow growth
• Delayed puberty
• Absent puberty

A physical examination may show signs of mild pulmonic stenosis (obstruction of the pulmonic heart valve) and obstructive cardiomyopathy.

Tests:

• ECG, may show abnormalities
• Hearing test
• Endocrine evaluation

Treatment is directed toward the correctable problems. The degree of hearing loss must be determined and hearing aids supplied. Action may be�necessary at the expected time of puberty�to�cause the normal changes to occur.

Most patients adjust very well with proper attention to their specific problems.

Complications are variable:

• Deafness
• Delayed puberty
• Heart problems
• Infertility

Call your health care provider if there are symptoms of this disorder.

Call for an appointment with your health care provider if you have a family history of this disorder and plan to have children.

Genetic counseling is recommended for people with a family history of multiple lentigines syndrome who want to have children.