European Journal of Dermatology

, Volume 27, Issue 4, pp 412–413 | Cite as

An adult case of cardiofaciocutaneous syndrome with BRAF mutation

  • Sayuri Sato
  • Tokimasa Hida
  • Masae Okura
  • Aki Ishikawa
  • Toshiharu Yamashita


  1. 1.
    Abe Y, Aoki Y, Kuriyama S, et al. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J Med Genet A 2012; 158A: 1083-94.CrossRefPubMedGoogle Scholar
  2. 2.
    Niihori T, Aoki Y, Narumi Y, et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 2006; 38: 294–6.CrossRefPubMedGoogle Scholar
  3. 3.
    Sarkozy A, Carta C, Moretti S, et al. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat 2009; 30: 695–702.CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Pierpont ME, Magoulas PL, Adi S, et al. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2014; 134: e1149–62.CrossRefGoogle Scholar
  5. 5.
    Siegel DH, McKenzie J, Frieden IJ, Rauen KA. Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. Br J Dermatol 2011; 164: 521–9.PubMedPubMedCentralGoogle Scholar
  6. 6.
    Roh MR, Eliades P, Gupta S, Tsao H. Genetics of melanocytic nevi. Pigment Cell Melanoma Res 2015; 28: 661–72.CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Rodriguez-Viciana P, Tetsu O, Tidyman WE, et al. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 2006; 311: 1287–90.CrossRefPubMedGoogle Scholar
  8. 8.
    Gallagher SJ, Thompson JF, Indsto J, et al. p16INK4a expression and absence of activated B-RAF are independent predictors of chemosensitivity in melanoma tumors. Neoplasia 2008; 10: 1231–9.CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    Adachi M, Abe Y, Aoki Y, Matsubara Y. Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review. Seizure 2012; 21: 55–60.CrossRefPubMedGoogle Scholar
  10. 10.
    Kinsler VA, Thomas AC, Ishida M, et al. Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. J Invest Dermatol 2013; 133: 2229–36.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© John Libbey Eurotext 2017

Authors and Affiliations

  • Sayuri Sato
    • 1
  • Tokimasa Hida
    • 1
  • Masae Okura
    • 1
  • Aki Ishikawa
    • 2
  • Toshiharu Yamashita
    • 1
  1. 1.Department of DermatologySapporo Medical University School of MedicineSapporo, HokkaidoJapan
  2. 2.Department of Medical GeneticsSapporo Medical University School of MedicineSapporo, HokkaidoJapan

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