To the Editor.—
Since Navaratnam and Hodgson1 described the first patient in 1973, there have been 24 reported cases of the cardiofaciocutaneous (CFC) syndrome, a genetic disorder of unknown cause with characteristic facies, cardiac defects, mental retardation, and cutaneous abnormalities. The cause of this disorder is presently unknown, and, although a genetic defect has been suggested, its exact pattern of inheritance is unclear. We describe a young boy with CFC syndrome who, in addition to the typical multisystem features, demonstrated café au lait lesions, acanthosis nigricans, and a syringocystadenoma papilliferum.
Report of a Case.—
Our patient, an 8-year-old boy born to unrelated Italian parents, was admitted to The Johns Hopkins Hospital, Baltimore, Md, for evaluation of severe mental retardation and self-injurious behavior. He had the characteristic facies of the CFC syndrome, including bitemporal constriction, hypertelorism, epicanthal folds, severe ptosis, a flattened nasal bridge, and low-set and posteriorly rotated ears
Mathews CA, George P, Hood AF. Cardiofaciocutaneous Syndrome. Arch Dermatol. 1993;129(1):46–47. doi:10.1001/archderm.1993.01680220058015
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: