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Multiple lentigines syndrome

Alternative names

Leopard syndrome


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

Causes, incidence, and risk factors

Multiple lentigines syndrome is inherited as an autosomal dominant trait. 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.


  • 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

Signs and tests

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

  • ECG , may show abnormalities
  • hearing test
  • endocrine evaluation


Treatment is directed toward the correctable problems. The degree of hearing loss must be determined and appropriate hearing aids supplied. Intervention at the expected time of puberty may be necessary in order precipitate the normal changes of puberty.

Expectations (prognosis)

Most patients adjust very well with proper attention to their specific problems.


Complications are variable:
  • deafness
  • delayed puberty
  • heart problems
  • infertility

Calling your health care provider

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 prospective parents with a family history of multiple lentigines syndrome.

Update Date: 10/27/2003

Jeffrey Drayer, M.D., Dermatologist, Los Angeles, CA. Review provided by VeriMed Healthcare Network.

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Last updated: Tue, 06 Jan 2009 00:20:03 GMT