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

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

Tests:

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

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:

• 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.

Gibbs NF, Makkar HS. Disorders of Hyperpigmentation and Melanocytes. In: Eichenfield LF, Frieden IJ, Esterly NB, eds. Textbook of Neonatal Dermatology. 2nd Ed. Philadelphia, Pa: Saunders Elsevier; 2001: p. 196.