Dermatologic Manifestations of the LEOPARD Syndrome

Abstract

The LEOPARD syndrome is an exceptional autosomal dominant genetic disease with a missense mutation of the PTPN11 gene in more than 90% of the cases. The principal clinical manifestations include extensive lentiginosis, heart conduction abnormalities, hypertrophic obstructive cardiomyopathy, ocular hypertelorism, pulmonary stenosis, genital anomalies, mental retardation, growth retardation and deafness. A woman with a LEOPARD syndrome illustrates the progressive development of melanocytic nevi. In fact, the majority of lentigines are actually melanocytic nevi. Sequential digital dermoscopy evidences progressive growth of some melanocytic lesions. The ever-increasing number of melanocytic nevi in the LEOPARD syndrome is a risk factor for melanoma and full body photography and dermoscopy are recommended for follow-up.