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

Palavras-chave: 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

Resumo

As rasopatias são doenças do desenvolvimento associadas a mutações da via RAS/MAPK. Nos últimos anos, o estudo das vias de sinalização intracelular permitiu a caraterização deste grupo de doenças genéticas, com manifestações clínicas variáveis e dependentes do gene afetado. As rasopatias podem associar-se a alterações do desenvolvimento cognitivo, doenças cardiovasculares, dismorfismo facial e manifestações cutâneas, assim como a um risco aumentado de neoplasias. Entre estas doenças incluem-se a síndrome de Noonan, a síndrome de LEOPARD, a neurofibromatose tipo 1, a síndrome de Legius, a síndrome de Costello e a síndrome cardio-facio-cutânea. O conhecimento das suas manifestações cutâneas é importante, uma vez que pode ajudar a estabelecer o diagnóstico clínico.

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