RESEARCH ARTICLE
Dermatologic Manifestations of the LEOPARD Syndrome
S. Cao, A.F. Nikkels*
Article Information
Identifiers and Pagination:
Year: 2013Volume: 7
First Page: 11
Last Page: 14
Publisher ID: TODJ-7-11
DOI: 10.2174/1874372201307010011
Article History:
Received Date: 31/12/2012Revision Received Date: 29/01/2013
Acceptance Date: 31/01/2013
Electronic publication date: 22/3/2013
Collection year: 2013
open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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.
