Multiple lentigines syndrome is an inherited disorder identified by an increased number of lentigines (freckle-like spots).

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