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Multiple lentigines syndrome

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Multiple lentigines syndrome

Definition:

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

Alternative Names:
Leopard syndrome

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Causes, incidence, and risk factors:

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.

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