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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

2011; Conselho Brasileiro de Oftalmologia; Volume: 74; Issue: 1 Linguagem: Inglês

10.1590/s0004-27492011000100013

1678-2925

Luisa Moreira Höpker, Christie Graf Ribeiro, Luciane Moreira Oliveira, Ana Tereza Ramos Moreira,

Advanced Glycation End Products research

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.