Meibomian Gland Dysfunction as a Manifestation of IFAP Syndrome

A 5-year-old girl was born with photophobia (A) and hair loss (B). Bilateral corneal neovascularization, superficial punctate keratopathy (C), meibomian gland drop-out with thickened meibum (D), and eyelid hyperkeratosis (C) were noted. Physical examination was unremarkable except for extensive non-scarring atrichia of scalp and hyperkeratotic follicles. A heterozygous mutation c.1573_1581del (p.P525_R527del) in SREBF1 gene was detected, whereas family detection was negative. Autosomal-dominant ichthyosis follicular, with atrichia and photophobia (IFAP) syndrome, a rare genetic disorder, was diagnosed.