Multiple lentigines syndrome

Alternative names:

leopard syndrome

Definition:

An inherited disorder characterized by lentigines (freckle-like spots) on the trunk.

Causes, incidence, and risk factors:

Multiple lentigines syndrome is inherited as an autosomal dominant trait although expression is very inconsistent. Affected people have large numbers of lentigines (freckle-like lesions 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. Affected people may have abnormal genitalia (cryptorchidism), hypogonadism, or delayed puberty.