Multiple lentigines syndrome

Multiple lentigines syndrome, also known as LEOPARD syndrome, is a rare genetic disorder characterized by the presence of multiple lentigines, a type of skin lesion. The syndrome is an autosomal dominant condition, meaning that an affected individual has a 50% chance of passing the disorder to their offspring.

Symptoms and Signs

The name LEOPARD is an acronym for the major signs and symptoms of this disorder: Lentigines, Electrocardiographic conduction defects, Ocular hypertelorism, Pulmonic stenosis, Abnormalities of genitalia, Retarded growth, and Deafness.

Lentigines

Lentigines are skin lesions that are darker than the surrounding skin. In individuals with Multiple lentigines syndrome, these lesions are often present in large numbers and can cover much of the body.

Electrocardiographic Conduction Defects

Electrocardiographic conduction defects refer to abnormalities in the electrical activity of the heart, which can lead to arrhythmias or other heart problems.

Ocular Hypertelorism

Ocular hypertelorism is a condition in which the eyes are spaced wider apart than normal, which can lead to vision problems.

Pulmonic Stenosis

Pulmonic stenosis is a heart condition in which the flow of blood from the right ventricle of the heart to the pulmonary artery is obstructed.

Abnormalities of Genitalia

Individuals with Multiple lentigines syndrome may have abnormalities of the genitalia, including undescended testes in males or abnormalities of the uterus in females.

Retarded Growth

Retarded growth refers to a slower rate of growth than normal, which can result in short stature.

Deafness

Deafness, or hearing loss, is also a common symptom of Multiple lentigines syndrome.

Causes

Multiple lentigines syndrome is caused by mutations in the PTPN11, RAF1, or BRAF genes. These genes are involved in the RAS/MAPK pathway, which regulates cell division and differentiation.

Diagnosis

Diagnosis of Multiple lentigines syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.

Treatment

Treatment for Multiple lentigines syndrome is symptomatic and supportive. This may include surgery for heart defects, hearing aids for deafness, and counseling for psychosocial issues.

See Also

• Genetic disorder
• Lentigines
• RAS/MAPK pathway

NIH genetic and rare disease info

• NIH info on Multiple lentigines syndrome

Multiple lentigines syndrome is a rare disease.

Multiple lentigines syndrome Resources
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