Manifestações Cutâneas das Rasopatias

Virgínia Coelho de Sousa; Inês Marques Fonseca; Ana Cordeiro; Maria João Paiva Lopes

doi:10.29021/spdv.75.1.713

Virgínia Coelho de Sousa Interna de Dermatologia e Venereologia/Dermatology and Venereology Resident, Hospital de Santo António dos Capuchos, Centro Hospitalar de Lisboa Central, Lisboa, Portugal
Inês Marques Fonseca Assistente Hospitalar de Pediatria/Consultant of Pediatry, Hospital do Barreiro, Centro Hospitalar do Barreiro/Montijo, Barreiro, Portugal
Ana Cordeiro Assistente Hospitalar de Pediatria/Consultant of Pediatry, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisboa, Portugal
Maria João Paiva Lopes Assistente Hospitalar Graduada de Dermatologia e Venereologia/Graduated Consultant of Dermatology and Verenerology, Serviço de Dermatologia, Hospital de Santo António dos Capuchos, Centro Hospitalar de Lisboa Central, Lisboa, Portugal

DOI: https://doi.org/10.29021/spdv.75.1.713

Keywords: Cardiofaciocutaneous Syndrome, Costello Syndrome, Legius Syndrome, LEOPARD Syndrome, Neurofibromatosis 1, ras Proteins/genetics, Skin Diseases/etiology

Abstract

Rasopathies are a group of developmental diseases associated with mutations in the RAS/MAPK pathway. In the recent years, the study of intracellular signaling pathways allowed the characterization of this heterogeneous group of genetic disorders, with pleomorphic clinical manifestations, depending on the mutated gene. Rasopathies may be associated with cognitive impairment, cardiovascular disease, facial dysmorphism and cutaneous findings, as well as an increased risk of neoplasia. This group includes the Noonan syndrome, LEOPARD syndrome, neurofibromatosis type 1, Legius syndrome, Costello syndrome and cardiofaciocutaneous syndrome. It is important to recognize the cutaneous findings of rasopathies, which can help to establish the clinical diagnosis.

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Cutaneous Manifestations of Rasopathies

Abstract

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