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Diseases of Pigment

Picture of Multiple Lentigines Syndrome (Back)

Picture of Multiple Lentigines Syndrome (Back)

LEOPARD syndrome is a rare genetic condition that is characterized by several features including:

Lentigines, dark spots that appear on the neck and head

Electrocardiogram (EKG) anomalies

Ocular hyperteleorism, or wide spacing between the eyes

Pulmonary stenosis, restricted blood flow from the right ventricle of the heart

Abnormalities of the genitals

Retarded growth, leading to small stature

Deafness due to inner ear malfunction (sensorineural type)

LEOPARD syndrome is inherited in an autosomal dominant manner. It is caused by a mutation in the protein-tyrosine phosphatase, non-receptor type 11 (PTPN11) gene. This is the same gene that is responsible for Noonan syndrome. Other names for LEOPARD syndrome include multiple lentigines syndrome and Noonan syndrome with multiple lentigines.

Image Source: Color Atlas & Synopsis of Pediatric Dermatology Kay Shou-Mei Kane, Jen Bissonette Ryder, Richard Allen Johnson, Howard P. Baden, Alexander Stratigos Copyright 2002 by The McGraw-Hill Companies. All rights reserved.

Text Reference: National Organization for Rare Disorders: "LEOPARD Syndrome"