Cutaneous Manifestations of Rasopathies

  • 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
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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Published
2017-04-17
How to Cite
Coelho de Sousa, V., Marques Fonseca, I., Cordeiro, A., & Paiva Lopes, M. J. (2017). Cutaneous Manifestations of Rasopathies. Journal of the Portuguese Society of Dermatology and Venereology, 75(1), 9-18. https://doi.org/10.29021/spdv.75.1.713
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Continuous Medica Education