LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW
- G Morcaldi
- T Bellini
- C Rossi
- M Maghnie
- F Boccardo
- E Bonioli
- C Bellini
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 neuro-developmental delay. This syndrome is classified as one of the RAS syndromes which are caused by altered signal transduction of the RAS/MAPK (mitogen activated proteinkinase) 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.
Keywords: Cardio-facio-cutaneous syndrome, RAS syndrome, lymphodysplasia, KRAS mutation
How to Cite:
Morcaldi, G. & Bellini, T. & Rossi, C. & Maghnie, M. & Boccardo, F. & Bonioli, E. & Bellini, C., (2015) “LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW”, Lymphology 48(3), p.121-127.