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.