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Multiple lentigines syndrome

Definition

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

Alternative Names

Leopard syndrome

Causes, incidence, and risk factors

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.

Symptoms

Symptoms of multiple lentigines include:

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

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

Signs and tests

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:

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.

Expectations (prognosis)

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

Complications

Complications vary and include:

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.

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: Saunders Elsevier; 2001: p. 196.


Review Date: 5/13/2011
Reviewed By: Jonathan Kantor, MD, North Florida Dermatology Associates, Jacksonville, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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. Call 911 for all medical emergencies. 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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