Introduction
Cardiofaciocutaneous (CFC) syndrome is a rare autosomal dominant
inherited disorder, though it can also manifest as a de novo mutation in
a family without a history of a similar condition (1). The syndrome was
first described by Reynolds et al. in 1986 (2). It results from a
mutation in genes encoding the rat sarcoma (RAS)/mitogen-activated
protein kinase (MAPK) signaling pathway and is known as one of the
RASopathies (3). The most common mutations in Cardiofaciocutaneous (CFC)
syndrome , including BRAF, MAP2K1 and MAP2K2, or rarely KRAS genes.
Multiple organs can be involved, manifesting with distinctive facial
features, cardiac abnormalities, neuromotor delay, intellectual
disability, and ectodermal abnormalities (4). The phenotypic features
overlap with other RASopathies, especially Noonan syndrome and Costello
syndrome (5). Ulerythema ophryogenes also known as Keratosis pilaris
rubra atrophicans faciei, is a rare dermatological disorder of
keratinization .the etiology is still unclear although it has been
associated with several congenital anomalies such as
cardiofaciocutaneous (CFC) syndrome ,Noonan syndrome, Cornelia De Lange
syndrome and Rubinstein-Taybi syndrome. and It manifests with
perifollicular erythema and multiple inflammatory keratotic facial
papules, which my result in alopecia ,scars and atrophy(6).