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January 1993

Cardiofaciocutaneous Syndrome

Author Affiliations

Department of Dermatology The Johns Hopkins Medical Institutions 601 N Wolfe St Baltimore, MD 21287

Arch Dermatol. 1993;129(1):46-47. doi:10.1001/archderm.1993.01680220058015

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

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