Cutaneous Manifestations of Rasopathies

• Autor(a) principal: Coelho de Sousa, Virgínia
• Data de Publicação: 2017
• Outros Autores: Marques Fonseca, Inês, Cordeiro, Ana, Paiva Lopes, Maria João
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://doi.org/10.29021/spdv.75.1.713
• topic: Cardiofaciocutaneous Syndrome; Costello Syndrome; Legius Syndrome; LEOPARD Syndrome; Neurofibromatosis 1; ras Proteins/genetics; Skin Diseases/etiology; Doenças da Pele/etiologia; Proteínas ras/genética; Neurofibromatose 1; Síndrome Cardio-Facio-Cutânea; Síndrome de Costello; Síndrome de Legius; Síndrome de LEOPARD; Síndrome de Noonan

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.