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LEOPARD syndrome
Monday, 06 September 2004
Monday, 06 September 2004
Multiple Lentigines syndrome, Cardiocutaneous syndrome, Progressive Cardiomyopathic lentiginosis

What

Leopard syndrome is a rare genetic disorder that can affect many parts of the body. It can cause freckle-like dark spots on the skin, heart problems, short stature, hearing defects, and abnormalities of the bones and reproductive organs. The freckle-like spots are called lentigines and it is these spots that led to the name of this disorder.

Who

Exactly how often Leopard syndrome occurs is not known. Around 100 cases have been reported in medical literature. Leopard syndrome occurs in both males and females and is found in all ethnic groups. Both familial (genetically inherited) and sporadic (a new genetic change) cases of Leopard syndrome have been reported.

Signs and Symptoms

Individuals with Leopard syndrome may have few or many of the signs and symptoms listed below. In the 1960s, some researchers named this syndrome ‘leopard,’ as an acronym. The letters stand for the signs and symptoms that are commonly associated with this syndrome. Since then, this name has been frequently used for this syndrome, although other names such as “Multiple Lentigines syndrome,” have been used as well.

  • The L stands for Lentigines. Lentigines are small brown or black spots on the skin. These spots usually first occur during childhood and increase in number until puberty. They can occur anywhere on the skin, but commonly occur on the face, neck, trunk, scalp, palms, and soles of the feet. Sometimes, the skin may also have increased elasticity, webbing or have other types of spots.
  • The E stands for electrocardiographic (EKG) conduction abnormalities. In the heart there is a special electrical system that helps the heart beat regularly. Some people with Leopard syndrome have abnormalities with this electrical heart system.
  • The O stands for ocular hypertelorism. This means that the eyes may be set far apart. Leopard syndrome can also cause other facial features such as: jaw problems, prominent and low set ears, drooping of the eyelids, and problems with the teeth and palate.
  • The P stands for pulmonary stenosis. There can be problems with the blood flow from the heart to the lungs due to structural defects in the heart-lung system. Cardiomyopathy may develop over time, which is a problem with the heart muscle itself.
  • The A stands for abnormal genitals. For example, in boys the testes may not have descended into the scrotum. Problems with the reproductive system can also cause delayed puberty.
  • The R stands for growth retardation. There can be problems with growth which leads to short stature. The skeletal system may have other abnormalities as well.
  • The D stands for hearing defects. The inner part of the ear may have defects that can cause hearing loss, which can lead to speech problems.
  • In a few cases, there can be developmental delay, learning problems or seizures.

Possible Causes

Leopard syndrome is due to a genetic change in a gene named PTPN11 and is inherited in an autosomal dominant manner. We have two copies of each gene; one from each parent. With an autosomal dominant disorder only one gene needs to have a change for the disease to occur. The PTPN11 gene helps form the PTPN11 protein which is important for the development of many tissues in the body. Thus, if the gene is not functioning properly, many tissues do not form correctly. Researchers are currently looking for other genes that may be involved in Leopard syndrome.

Diagnosis

Leopard syndrome is diagnosed by finding the signs and symptoms described above on physical examination. Each of the signs and symptoms can have many different causes, but when they are present together the diagnose Leopard syndrome can be made. A cardiologist can evaluate for structural heart problems or an abnormal electrical system. Imaging studies, X-rays and ultrasounds, can be used to check for defects of the skeletal system and reproductive organs. Blood tests can also be done to check the levels of hormones that are important for the reproductive organs and general growth. A hearing screening can be used to identify hearing defects.

Treatment

Although there is no cure for Leopard syndrome, supportive treatment can help manage the signs and symptoms. A dermatologist can manage the skin spots, a cardiologist can help with heart problems and may recommend medications to help the heart function better and decrease the risk of serious complications. Since heart disease can be progressive in Leopard syndrome, regular follow-up with a cardiologist is recommended. For abnormalities of the reproductive organs and growth problems, medications or surgery may be needed, such as surgery for testes that have not descended. Skeletal problems may also require surgery. Hearing aids and speech therapy can be useful resources for hearing defects.

Prognosis

Leopard syndrome generally has a good prognosis, unless there are significant problems, such as with heart defects and complications from these heart defects. The prognosis can vary a great deal depending on which signs and symptoms are present and their severity.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Leopard syndrome support group
This is an online support group for Leopard syndrome through which you may be able to find other individuals affected with this syndrome and exchange resources.

Medline-Plus
This website has a short summary of Leopard syndrome.

Orpha Net (Rare diseases website)
This website also has a short summary of Leopard syndrome plus links that may be useful.

American Heart Association
Although this website doesn’t have specific information on Leopard syndrome, it has a lot of information on general heart problems, treatments, and helpful links. For instance, you can go to the “Diseases & conditions” links and look up cardiomyopathy or arrhythmias for more information on these conditions.

http://www.nhlbi.nih.gov/health/public/heart/index.htm http://www.csun.edu/~hcmth011/heart/
These are other websites with links on general information for heart problems, diagnostic tools, and treatments.

Human Growth Foundation
This website has a lot of information on growth hormones, such as diagnostic tests that are used.

MAGIC Foundation for Children's Growth
http://www.magicfoundation.org/os/default.htm
This group also has information on growth deficiency and may help you find other individuals with Leopard syndrome.

Google Search for LEOPARD syndrome

References and Sources

Online Mendelian Inheritance in Man: Leopard syndrome www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=151100 Online Mendelian Inheritance in Man: PTPN11 gene www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176876 E-medicine: Leopard syndrome www.emedicine.com/derm/topic627.htm Orpha Net www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=500 Tong et al (2001) Singapore Med J 42: 328-331 (Reviews signs and symptoms) www.64.233.167.104/search?q=cache:mpuI9hEXok0J:www.sma.org.sg/smj/4207/4207cr3.pdf+Leopard+syndrome&hl=en Abdelmalek et al (1999) BUMC Proceedings 12: 272-274 (Reviews signs and symptoms) www.baylorhealth.edu/proceedings/12_4/12_4_menter.html