title: A rare variant of ankyloblepharon filiforme adnatum associated with skin hypopigmentation: A case report from South India.
abstract: We report ankyloblepharon filiforme adnatum (AFA) along with associated skin lesions in a 7-day-old child from South India. It could be a variant of the well described ankyloblepharon-ectodermal defects-cleft lip and palate syndrome also called Hay-Wells syndrome wherein AFA, skin lesions, and clefting are characteristic. The ocular features, genetic inheritance, and possible systemic associations, along with the options for management, are discussed. The need for awareness among ophthalmologists of its systemic associations is discussed to ensure that proper multidisciplinary care is offered to the individuals affected by this rare disorder. This article also highlights the unusual hypopigmented skin lesions found in this infant, which has been scantily reported in the literature, as a possible variation in patients of Indian ethnicity.
authors.affiliation: Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia.
authors.forename: Shilpa Elizabeth
authors.initials: SE
authors.lastname: Kuruvilla
authors.forename: Arathi Roddam
authors.initials: AR
authors.lastname: Simha
mesh_terms: D002971:Cleft Lip / Q000175:diagnosis*; D002972:Cleft Palate / Q000175:diagnosis*; D005124:Eye Abnormalities / Q000175:diagnosis*; D006801:Humans; D017496:Hypopigmentation / Q000175:diagnosis*; D007194:India; D007231:Infant, Newborn; D008297:Male; D035583:Rare Diseases; D012867:Skin / Q000473:pathology*