Dermatologic Manifestations of the LEOPARD Syndrome

S. Cao
2013 Open Dermatology Journal  
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.
more » ... n 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.
doi:10.2174/1874372201307010011 fatcat:hbk3opavb5fl3hwbeg3gmrqpha