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

Arquivos Brasileiros de Oftalmologia

Luisa Moreira Höpker²  Christie Graf Ribeiro¹  Luciane Moreira Oliveira¹  Ana Tereza Ramos Moreira¹ 

[1] ,Federal University of São Paulo Ophthalmology Service São Paulo SP ,Brazil

关键词: Ichthyosis;    Alopecia;    Photophobia;    Ichthyosis;    Alopecia;    Photophobia;    Ichthyosis;    Alopecia;    Photophobia;    Retinoids;    Amnion;    Chromosomes;    human;    X;    Ictiose;    Alopecia;    Fotofobia;    Ictiose;    Alopecia;    Fotofobia;    Ictiose;    Alopecia;    Fotofobia;    Retinóides;    Âmnio;    Cromossomos humanos X;    Relatos de casos;   

DOI  :  10.1590/S0004-27492011000100013

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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