John Libbey Eurotext

European Journal of Dermatology

An adult case of cardiofaciocutaneous syndrome with BRAF mutation Volume 27, numéro 4, July-August 2017

Illustrations

  • Figure 1
Auteurs
1 Department of Dermatology,
Sapporo Medical University School of Medicine,
Sapporo, Hokkaido, Japan
2 Department of Medical Genetics,
Sapporo Medical University School of Medicine,
Sapporo, Hokkaido, Japan

Cardiofaciocutaneous syndrome (CFCS) is a genodermatosis characterized by cardiac, craniofacial, cutaneous, and neurological abnormalities. It is caused by germ-line mutations in the BRAF, KRAS, MAP2K1 or MAP2K2 genes. CFCS is one of the RASopathies that are caused by germ-line mutations in genes that encode components of the RAS/mitogen-activated protein kinase pathway. To date, there are only a few cases of adult patients with CFCS [1].A 29-year-old woman presented with over 120 melanocytic nevi [...]