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    Multiple lentigines syndrome

    LEOPARD syndrome

    Multiple lentigines syndrome is an inherited disorderin which there is an increased number of lentigines (freckle-like spots) on the body.

    Causes

    Multiple lentigines syndrome is inherited as an autosomal dominant trait. This means you onlyneed to get the abnormal gene from one parent in order for you to inherit the disease.

    Persons with this condition have large numbers of lentigines. Lentigines are skin markings that are darker than true freckles. They are present from birth. They are located mostly on the trunk and neck.

    Symptoms

    Symptoms of multiple lentigines include:

    • Abnormal genitalia
    • Absent or delayed puberty
    • Cafe-au-lait spots (light brown birthmarks)
    • Hearing problems (partial deafness)
    • Heart defects (electrocardiographic conduction)
    • Hypogonadism
    • Multiple spots on neck and trunk
    • Pectus carinatum (abnormalities of the sternum or breastbone)
    • Pectus excavatum
    • Prominent ears
    • Pulmonary artery narrowing
    • Slow growth
    • Undescended testicles (cryptorchidism)
    • Wide-set eyes (hypertelorism)

    Note: Scattered lentigines is normal and does not indicate a problem.

    The health care provider will perform a physical exam and listen to your heart with a stethoscope. There may be signs of a heart valve problems or obstructive cardiomyopathy.

    Tests that may be done can include:

    • ECG
    • Hearing test
    • CT scan of the brain
    • Skull x-ray
    • EEG

    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 or bleaching creams may help lighten some of the brown spots on the skin.

    Outlook (Prognosis)

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

    Complications vary and include:

    • Deafness
    • Delayed puberty
    • Heart problems
    • Infertility

    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.

    References

    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: Elsevier Saunders; 2008:chap 22.

    Rabinovitz HS, Barnhill RL. Benign melanocytic neoplasms. In: Bolognia JL, Jorizzo JL, Schaffer JV, eds. Dermatology. 3rd ed. Philadelphia, Pa: Elsevier Saunders; 2012:chap 112.

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    • Pectus excavatum

      illustration

      • Pectus excavatum

        illustration

      A Closer Look

        Self Care

          Tests for Multiple lentigines syndrome

            Review Date: 5/15/2013

            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, Bethanne Black, and the A.D.A.M. Editorial team.

            The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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