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Carol A. Mathews, MD; Pierre George, MD; Antoinette F. Hood, MD
Department of Dermatology The Johns Hopkins Medical Institutions 601 N Wolfe St Baltimore, MD 21287

Arch Dermatol. 1993;129(1):46-47.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

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 . . . [Full Text PDF of this Article]

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