Cardio facial cutaneous

This pathway is involved in a signal transduction cascade that is necessary for the proper formation of several types of tissue during embryonic and postnatal development. CFC syndrome is characterized by failure to thrive, feeding difficulties, congenital heart defects, distinctive facial features, curly sparse hair, skin rashes, neurologic complications e. CFC syndrome is a multisystemic disorder whose expression is highly variable. Proper management by specialists across a variety of disciplines is critical because CFC syndrome must be correctly identified and comprehensively managed. Distinguishing CFC syndrome from other phenotypically similar syndromes, such as Noonan syndrome or Costello syndrome, is important for proper medical management. The RASopathies are multisystemic disorders whose expressions are highly variable, even among family members.

The concept of neuro-cardio-facio-cutaneous NCFC syndrome has recently been formulated in order to bring together a number of hereditary diseases that include a number of shared phenotypic features to differing degrees: i craniofacial dysmorphia; ii delayed growth; iii mental retardation or learning difficulties; iv cardiac malformations most commonly pulmonary valve stenosis and hypertrophic cardiomyopathy ; v cutaneous anomalies, and in some cases, predisposition to certain forms of malignant solid tumors and blood diseases, associated at the physiopathological level with deregulation of the Ras-MAP kinase cellular signaling pathways 1. While the majority of these diseases are readily distinguishable in clinical terms, with or without diagnostic criteria, none of them have any pathognomonic signs. Many cases attest to the strong clinical homologies and forms of overlapping between these different diseases. In recent years, the discovery of germinal mutations of these different diseases has in fact reinforced the unifying clinical and biochemical concept of NCFC syndrome. Boccara, C. Girard, L. Mortier, G.

European Journal of Pediatrics. The RAS-MAPKinase pathway is a signal transduction cascade which has been studied extensively during the last decades for its role in human oncogenesis. Activation of this cascade is controlled by cycling of the RAS protein between an inactive and an active state and by phosphorylation of downstream proteins.

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