Case Presentation
The patient was an 11-year-old male Iranian who came to our dermatology center with a chief complaint of eyebrow hair loss since five years earlier. Past medical history revealed he was the product of a Cesarean section with a gestational age of 31 weeks. He had anemia, growth retardation, and developmental delay during infancy. His mother had one history of abortion before his birth.
On the physical examination, the boy had short stature, low-set ears, bilateral ptosis (operated four years earlier) (Fig. 1), inflammatory keratotic papules and hair loss on eyebrows (Fig. 2), hypertelorism, high-arched palate, severe dental caries, mandibular prognathism, and curly hair. Pectus carinatum was seen, and the boy’s intelligence quotient was at the lower limit of normal.
Echocardiography showed minimal mitral valve prolapse and minimal mitral regurgitation.
A skin biopsy was taken from the keratotic inflammatory papules of the eyebrows. The pathology report stated a slightly dilated infundibulum filled by basket-weave keratin layers, focal perifollicular fibrosis in the papillary and reticular dermis, and increased telogen follicles, compatible with ulerythema ophryogenes (Fig. 3). The cardiofaciocutaneous (CFC) syndrome was confirmed by genetic testing. The patient was referred to multidisciplinary team consisting of a dermatologist, geneticist, cardiologist, and orthopedist and ophtalmologist evaluated the patient and devised the management and follow-up plan.