AE is lethal, usually within the first few years of life, if left untreated. However, an untreated adult survivor was reported. No racial predilection exists. No sex preference exists. Symptoms of AE occur within the first few months after birth in nonbreastfed infants or tend to appear shortly after discontinuation of breastfeeding.
Ocular disease is a byproduct of lid, conjunctival, and ocular surface deficits.
Infants display photophobia and blepharospasm, which may threaten deprivation amblyopia in severe cases. Lid sloughing and secondary infections can be significant. Chronic conjunctivitis, blepharitis, punctate keratopathy, and even keratomalacia further complicate the ocular picture. Lesions are distributed in a periorificial and acral pattern, on the face, scalp, lids, hands, feet, and anogenital areas. Paronychia and alopecia with loss of scalp hair, eyebrows, and eyelashes may occur.