title: Ichthyosis follicularis, alopecia and photophobia syndrome (IFAP): report of the first case with ocular and cutaneous manifestations in Brazil with a favorable response to treatment.
abstract: Ichthyosis follicular, alopecia, and photophobia (IFAP) syndrome is a rare disease, with possible X-linked mode of inheritance. The patient presented with ocular findings of photophobia, corneal scarring and erosions, superficial and deep corneal vascularization and myopia. He was treated with artificial tears and punctal occlusion with small improvement of photophobia. After three months using systemic retinoid (Acitretina) and posterior amniotic membrane transplantation in the left eye, there was a significant improvement of photophobia, corneal erosions and neuropsychomotor development.
authors.affiliation: Vision Center, Department of Ophthalmology and Otorrhinolaryngology, Hospital de Clínicas, Federal University of Paraná, Curitiba (PR), Brazil. luhopker2@yahoo.com.br
authors.forename: Luisa Moreira
authors.initials: LM
authors.lastname: Höpker
authors.forename: Christie Graf
authors.initials: CG
authors.lastname: Ribeiro
authors.forename: Luciane Moreira
authors.initials: LM
authors.lastname: Oliveira
authors.forename: Ana Tereza Ramos
authors.initials: AT
authors.lastname: Moreira
mesh_terms: D017255:Acitretin / Q000627:therapeutic use; D000505:Alopecia / Q000175:diagnosis* / Q000188:drug therapy; D000650:Amnion / Q000637:transplantation; D002675:Child, Preschool; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis* / Q000188:drug therapy; D007641:Keratolytic Agents / Q000627:therapeutic use; D008297:Male; D020795:Photophobia / Q000175:diagnosis* / Q000601:surgery; D013577:Syndrome
chemical_list: D007641:Keratolytic Agents; D017255:Acitretin