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LEOPARD syndrome

 

LEOPARD syndrome is a very rare inherited disorder in which there are problems with the skin, face, and heart.

Causes

LEOPARD syndrome is inherited as an autosomal dominant trait. This means the person only needs the abnormal gene from one parent in order to inherit the disease.

Symptoms

 

LEOPARD stands for the different problems (signs and symptoms) of this disorder:

  • L entigines – large number of brown or black freckle-like skin markings that mainly affect the neck and upper chest but can appear all over the body
  • Electrocardiograph conduction abnormalities – problems with the electrical and pumping functions of the heart
  • O cular hypertelorism – eyes that are spaced wide apart
  • Pulmonary valve stenosis – narrowing of the pulmonary heart valve, resulting in less blood flow to the lungs and causing shortness of breath
  • A bnormalities of the genitals – such as undescended testicles
  • R etardation of growth ( delayed growth ) – including bone growth problems of the chest and spine
  • D eafness – hearing loss may vary between mild and severe

 

Exams and Tests

 

The health care provider will perform a physical exam and listen to the heart with a stethoscope.

Tests that may be done include:

  • ECG and echocardiogram
  • Hearing test
  • CT scan of the brain
  • Skull x-ray
  • EEG
  • Blood tests to check certain hormone levels

 

Treatment

 

Symptoms are treated as appropriate. A hearing aid may be needed. Hormone treatment may be necessary at the expected time of puberty to cause the normal changes to occur.

Laser, cryosurgery (freezing), or bleaching creams may help lighten some of the brown spots on the skin.

 

Possible Complications

 

Complications vary and include:

  • Deafness
  • Delayed puberty
  • Heart problems
  • Infertility

 

When to Contact a Medical Professional

 

Call your provider if there are symptoms of this disorder.

Call for an appointment with your 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 LEOPARD syndrome who want to have children.

 

 

References

Martínez-Quintana E, Rodríguez-González F. LEOPARD syndrome: clinical features and gene mutations. Mol Syndromol . 2012;3:145-57. PMID: 23239957 www.ncbi.nlm.nih.gov/pubmed/23239957 .

Porciello R, Divona L, Strano S, Carbone A, Calvieri C, Giustini S. LEOPARD syndrome. Dermatol Online J . 2008;14(3):7. PMID: 18627709 www.ncbi.nlm.nih.gov/pubmed/18627709 .

Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. Orphanet J Rare Dis . 2008;3:13. PMID: 18505544 www.ncbi.nlm.nih.gov/pubmed/18505544 .

 
  • Pectus excavatum - illustration

    Pectus excavatum is a condition in which the "breast bone" (sternum) appears sunken and the chest concave. It is sometimes called "funnel chest". The majority of these cases are not associated with any other condition (isolated findings). However, some genetic conditions include pectus excavatum.

    Pectus excavatum

    illustration

    • Pectus excavatum - illustration

      Pectus excavatum is a condition in which the "breast bone" (sternum) appears sunken and the chest concave. It is sometimes called "funnel chest". The majority of these cases are not associated with any other condition (isolated findings). However, some genetic conditions include pectus excavatum.

      Pectus excavatum

      illustration

    A Closer Look

     

      Talking to your MD

       

        Self Care

         

          Tests for LEOPARD syndrome

           

             

            Review Date: 4/14/2015

            Reviewed By: Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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