Lymphodysplasia and KRAS mutation: A case report and literature review

G. Morcaldi, T. Bellini, C. Rossi, M. Maghnie, F. Boccardo, E. Bonioli, C. Bellini

Research output: Contribution to journalArticlepeer-review

Abstract

Cardio-facio-cutaneous (CFC) syndrome is a very rare and sporadic disease whose characteristics include dysmorphic facial appearance, ectodermal abnormalities, cardiac abnormalities, growth retardation and neurodevelopmental delay. This syndrome is classified as one of the RAS syndromes which are caused by altered signal transduction of the RAS/MAPK (mitogen activated protein kinase) pathway due to the mutation of genes including BRAF, MEK1/2, HRAS and KRAS. Other RAS syndromes, such as Costello syndrome and Noonan syndrome, share clinical features with CFC. Moreover, patients with the same clinical phenotype may have different molecular diagnoses. Clinical diagnosis is the starting point for correct classification. We describe the clinical data of one case of CFC syndrome, genetically determined by KRAS mutation, that involved chylothorax, lymphedema, sinus pericranii, craniosynostosis, and seizures. This is the second case report of the literature.

Original languageEnglish
Pages (from-to)121-127
Number of pages7
JournalLymphology
Volume48
Issue number3
Publication statusPublished - Sep 1 2015

Keywords

  • Cardio-facio-cutaneous syndrome
  • KRAS mutation
  • Lymphodysplasia
  • RAS syndrome

ASJC Scopus subject areas

  • Immunology and Allergy
  • Hematology

Fingerprint

Dive into the research topics of 'Lymphodysplasia and KRAS mutation: A case report and literature review'. Together they form a unique fingerprint.

Cite this