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毛囊性鱼鳞病、脱发和畏光综合征(IFAP):巴西首例伴有眼部和皮肤表现且治疗反应良好的病例报告。

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.

作者信息

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

机构信息

Vision Center, Department of Ophthalmology and Otorrhinolaryngology, Hospital de Clínicas, Federal University of Paraná, Curitiba (PR), Brazil.

出版信息

Arq Bras Oftalmol. 2011 Jan-Feb;74(1):55-7. doi: 10.1590/s0004-27492011000100013.

DOI:10.1590/s0004-27492011000100013
PMID:21670910
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.

摘要

毛囊性鱼鳞病、脱发和畏光(IFAP)综合征是一种罕见疾病,可能为X连锁遗传模式。该患者出现畏光、角膜瘢痕和糜烂、角膜浅层和深层血管化以及近视等眼部表现。给予人工泪液和泪点封闭治疗后畏光症状稍有改善。使用全身性维甲酸(阿维A)并对左眼进行羊膜后移植三个月后,畏光、角膜糜烂及神经精神运动发育均有显著改善。

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Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report.沙特一名儿童的毛囊性鱼鳞病、脱发和畏光综合征:病例报告
Clin Cosmet Investig Dermatol. 2023 Dec 7;16:3527-3533. doi: 10.2147/CCID.S439288. eCollection 2023.
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A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.巴西一例 IFAP 综合征病例,伴有严重先天性鱼鳞病和肢体畸形,由 MBTPS2 中的罕见变异引起。
Rev Paul Pediatr. 2023 Apr 7;41:e2022057. doi: 10.1590/1984-0462/2023/41/2022057. eCollection 2023.