Cardiofaciocutaneous Syndrome

The mother of a 7-year-old boy with cardiofaciocutaneous syndrome sought treatment for the cutaneous aspects of her son's disease. Dry skin and keratosis pilaris of the upper outer arms were noted.

Cardiofaciocutaneous syndrome-a rare autosomal dominant genetic disorder-had been diagnosed when the child was 3 years old. Dr Jonathan S. Crane, Patricia Hood, PA-C, and John D. Schoonmaker, PA-C, of Wilmington, NC, write that this disorder is characterized by facial and cranial anomalies, heart malformations, and skin abnormalities. Their patient demonstrated most of the characteristics of the syndrome.

The craniofacial malformations include macrocephaly; high forehead; sparse, brittle, curly scalp hair; absent or sparse eyebrows and eyelashes; nystagmus; widened palpebral fissures; ptosis; and prominent ears with abnormal rotation. Growth delays, mild to severe mental retardation, and psychomotor retardation are common.

The heart defects, which may be congenital or develop later, can include pulmonary stenosis, atrial septal defect, and/or hypertrophic cardiomyopathy.

Cutaneous features of the syndrome are thin, opalescent nails; dry, scaly skin; hyperkeratotic patches; keratosis plantaris; and keratosis pilaris. The last feature is characterized by small, rough follicular papules that are commonly found over the posterolateral upper arms and anterior thighs. These lesions can persist in the same areas for years.

Twice-daily applications of ammonium lactate, 12%, cream were prescribed. The patient's mother was advised to bathe the child in lukewarm water and to apply moisturizing cream copiously on mildly affected skin. Continued use of the ammonium lactate cream on areas of prominent keratosis pilaris was recommended.