Leopard syndrome
    
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Leopard syndrome

Definition

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

Alternative Names

Leopard syndrome

Causes

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.

Symptoms

  • 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

Exams and Tests

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

Tests:

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

Treatment

Treatment is directed toward the correctable problems. The degree of hearing loss must be determined and hearing aids supplied. Action may be necessary at the expected time of puberty to cause the normal changes to occur.

Outlook (Prognosis)

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

Possible Complications

Complications are variable:

When to Contact a Medical Professional

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.

Prevention

Genetic counseling is recommended for people with a family history of multiple lentigines syndrome who want to have children.

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