LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW

Abstract

Cardio-facio-cutaneous (CFC) syndromeis a very rare and sporadic disease whosecharacteristics include dysmorphic facialappearance, ectodermal abnormalities, cardiacabnormalities, growth retardation and neurodevelopmentaldelay. This syndrome isclassified as one of the RAS syndromes whichare caused by altered signal transduction ofthe RAS/MAPK (mitogen activated proteinkinase) pathway due to the mutation of genesincluding BRAF, MEK1/2, HRAS and KRAS.Other RAS syndromes, such as Costellosyndrome and Noonan syndrome, shareclinical features with CFC. Moreover, patientswith the same clinical phenotype may havedifferent molecular diagnoses. Clinicaldiagnosis is the starting point for correctclassification. We describe the clinical dataof one case of CFC syndrome, geneticallydetermined by KRAS mutation, that involvedchylothorax, lymphedema, sinus pericranii,craniosynostosis, and seizures. This is thesecond case report of the literature.