Multiple Lentigenes Syndrome Health Article

Definition

Multiple lentigenes syndrome is a rare genetic condition that causes the affected individual to have many dark brown or black freckle-like spots on the skin, as well as other symptoms.

Description

Multiple lentigenes syndrome is a genetic disorder that results in characteristic marking of the skin, abnormalities in the structure and function of the heart, hearing loss, wide-set eyes, and other symptoms. Other terms for multiple lentigenes syndrome include cardiomyopathic lentiginosis and LEOPARD syndrome. LEOPARD syndrome is an acronym for the seven most commonly observed symptoms of the disorder:

• (L)entigenes, or small dark brown and black spots on the skin;
• (E)lectrocardiographic conduction defects, or abnormalities of the muscle activity in the heart;
• (O)cular hypertelorism, or eyes that are spaced farther apart than normal;
• (P)ulmonary stenosis, or narrowing of the lower right ventricle of the heart;
• (A)bnormalities of the genitals, such as undescended testicles or missing ovaries;
• (R)etarded growth leading to shortness of stature;
• (D)eafness or hearing loss.

The lentigenes, or skin spots, observed in multiple lentigenes syndrome are similar in size and appearance to freckles, but unlike freckles, they are not affected by sun exposure.

Genetic profile

Multiple lentigenes syndrome is inherited as an autosomal dominant trait. Autosomal means that the syndrome is not carried on a sex chromosome, while dominant means that only one parent has to pass on the gene mutation in order for the child to be affected with the syndrome.

As of 2001, the specific gene mutation responsible for multiple lentigenes syndrome had not been identified.

Demographics

Multiple lentigenes syndrome is extremely rare. Due to the small number of reported cases, demographic trends for the disease have not been established. There does not seem to be any clear ethnic pattern to the disease. Both males and females appear to be affected with the same probability.