RWJUH at Hamilton
SearchSite Map
Contact UsHelp
Medical Services Your Support Employment Patient/Visitor's Guide Directions

For a complete list of hospital classes and events, click here to connect to HealthConnection Online



Medical Encyclopedia

Encyclopedia -> Disease -> M -> Multiple lentigines syndrome

Multiple lentigines syndrome

Alternate Names: Leopard syndrome

Causes and Risks: Multiple lentigines syndrome is inherited as an autosomal dominant trait although expression is very inconsistent. 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.

Prevention: Genetic counseling is recommended for prospective parents with a family history of multiple lentigines syndrome.

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

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

Tests:

Treatment: 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.

Prognosis: People should do well with proper attention to their specific problems.

Complications: Complications are variable:

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.

Disclaimer: The text presented on these pages is for your information only. It is not a substitute for professional medical advice. It may not represent your true individual medical situation. Do not use this information to diagnose or treat a health problem or disease without consulting a qualified health care provider. Please consult your health care provider if you have any questions or concerns.

Copyright © 1999-2001 Medical Network Inc. All rights reserved. No part of the contents of this web site may be reproduced or transmitted in any form or by any means, without the written permission of the publisher. "HealthAtoZ.com" should be prominently displayed on any material reproduced with the publisher's consent.