Case Report - Oral Lichen Planus in a Teenager with Cardiofaciocutaneous Syndrome

Scola MJ, Aguas SC, Adler LI, Gandolfo MS

Abstract: Cardiofaciocutaneous syndrome (CFCS) is an extremely rare genetic disorder that belongs to the group of syndromes known as RASopathies. The craniofacial and ectodermal manifestations of this syndrome are distinctive and play an important role in the diagnosis of this entity. Nevertheless, there is no scientific evidence to date of the presence of CFCS-related lesions in the oral mucosa. The present study is the first to report the presence of oral lichen planus (OLP) in a patient with CFCS. This finding should be taken into account in the assessment and diagnosis of CFCS in order to establish whether it is an un-related lesion or is associated with the syndrome.

Keywords: Cardiofaciocutaneous syndrome, RAS genes, RAS proteins, RASopathies, oral lichen planus