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Pigmented nonmelanocytic skin lesions
Published in Dimitris Rigopoulos, Alexander C. Katoulis, Hyperpigmentation, 2017
Elvira Moscarella, Simonetta Piana, Caterina Longo, Giuseppe Argenziano
LEOPARD syndrome (lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness syndrome) is a complex genetic disorder that is transmitted as an autosomal dominant trait with variable penetrance. A mutation of the PTPN11 gene may be documented.9 Lentigines are present at birth and increase in number until puberty. The intensity of the pigmentation varies. The lesions are numerous on the neck and trunk, but they can also be widespread and involve the genitalia, palms, soles, and scalp.
Personalized Medicine in Hereditary Cancer Syndromes
Published in II-Jin Kim, Cancer Genetics and Genomics for Personalized Medicine, 2017
The underlying genetic mutations affect different sections of the RAS/RAF/MAPK pathway in each syndrome. Noonan syndrome is associated with mutations in the PTPN11, KRAS, SOS, and RAF1 genes [44]. LEOPARD syndrome is associated with mutations in PTPN11 and RAF1. Patients with Costello syndrome have mutations in the HRAS gene. Patients with cardiofaciocutaneous syndrome have mutations in BRAF, MAP2K1 and MAP2K2, and KRAS [44].
A Narrative Review of the Ocular Manifestations in Noonan Syndrome
Published in Seminars in Ophthalmology, 2022
Evita Evangelia Christou, Paraskevas Zafeiropoulos, Dimitrios Rallis, Maria Baltogianni, Christoforos Asproudis, Maria Stefaniotou, Vasileios Giapros, Ioannis Asproudis
The RASopathies are a clinically defined group of medical genetic syndromes.5,13,20 Regarding the wide spectrum of clinical entities of these syndromes, distinct disorders have been described; (a) neurofibromatosis type 1, (b) Noonan syndrome, (c) Noonan syndrome with multiple lentigines (formerly referred as LEOPARD syndrome), (d) capillary malformation–arteriovenous malformation syndrome, (e) Costello syndrome, (f) cardio-facial-cutaneous syndrome and (g) Legius syndrome. The pathogenesis of RASopathies is associated with germline mutations in genes encoding components or regulators of the RAS/MAPK pathway.5,13,20 The RAS/MAPK pathway is critical for signal transduction through extracellular ligands (growth factors, cell adhesion molecules, cytokines, and hormones) with an essential role in regulating the cell cycle, proliferation, differentiation, and metabolism. Indeed, it plays a vital role in embryonic and postnatal development.
Importance of cardiovascular examination in patients with multiple lentigines: two cases of LEOPARD syndrome with hypertrophic cardiomyopathy
Published in Acta Clinica Belgica, 2019
Tomas Jurko, Alexander Jurko, Jana Krsiakova, Alexander Jurko, Milan Minarik, Michal Mestanik
LEOPARD syndrome is a rare genetic disorder that affects multiple organs. LEOPARD is an acronym for the initial letters of the characteristic symptoms: L – lentigines; E – electrocardiographic conduction abnormalities; O – ocular hypertelorism; P – pulmonary stenosis; A – abnormal genitalia; R – retardation of growth; and D – deafness (sensorineural) [1].