Multiple lentigines syndrome is an inherited disorderÂ identified by an increased number of lentigines (freckle-like spots).
Multiple lentigines syndrome is inherited as an autosomal dominant trait. People with this condition have large numbers of lentigines. Lentigines are skin markings that are somewhat darker than true freckles. They are present from birth. They 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).
In contrast, having scattered lentigines is normal and does not indicate a problem.
Additional symptoms include mild pulmonic stenosis and changes in the ECG (electrocardiogram). People with this condition may have abnormal genitalia (cryptorchidism), hypogonadism, or delayed puberty.
A physical examination may show signs of mild pulmonic stenosis (obstruction of the pulmonic heart valve) and obstructive cardiomyopathy.
The goal of treatment is to help with the correctable problems. The degree of hearing loss must be determined and hearing aids supplied where necessary. Hormone treatment 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 vary and include:
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.