Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) Syndrome, Type 2: Clinical Case

E. T. Ambarchyan, Anastasia D. Kuzminova, Totuy K. Eldarova, V. V. Ivanchikov, N. V. Zhurkova, N. Vashakmadze
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Abstract

Background. Ichthyosis follicularis with atrichia and photophobia (IFAP syndrome), type 2 is a rare hereditary disease from the group of syndromic forms of ichthyosis. It is clinically characterized by triad of non-inflammatory follicular ichthyosis, total or subtotal alopecia at birth or shortly after, and photophobia of different severity. There is no etiotropic therapy for IFAP syndrome, while symptomatic treatment (emollients, keratolytics, retinoids) is aimed on stabilizing the patient’s condition and maintaining the optimal quality of life. About 60 cases of IFAP syndrome have been described worldwide by 2023, and none in Russia.Clinical case description. The girl, 2 years 3 months old, had signs of xeroderma, follicular hyperkeratosis, photophobia with lacrimation, and alopecia. The diagnosis of “ichthyosis follicularis with atrichia and photophobia (IFAP syndrome), type 2, autosomal dominant” was established according to anamnesis, clinical signs, and results of whole-exome sequencing, followed by validation of the identified nucleotide variant chr17:17720597G>A, p.1669C>T (p.Arg557Cys NM_001005291.2) in exon 9 of the SREBF1 gene via direct automatic sequencing in the patient and both parents (not revealed in her parents).Conclusion. Molecular genetic testing is crucial to establish IFAP syndrome as clinical signs of the disease are similar to other dermatoses. However, physicians need to have clinical suspicion when identifying cases of follicular ichthyosis in combination with alopecia and photophobia at or shortly after birth to timely diagnose IFAP syndrome and thus prevent any treatment delays.
毛囊性鱼鳞病、毛囊角化症和畏光症(IFAP)综合征 2 型:临床病例
背景。2型毛囊性鱼鳞病(Ichthyosis follicularis with atrichia and photophobia,IFAP syndrome)是一种罕见的遗传性鱼鳞病综合征。它的临床特征是非炎症性毛囊性鱼鳞病、出生时或出生后不久出现完全或次完全脱发以及不同程度的畏光。目前还没有针对鱼鳞病综合征的病因治疗方法,而对症治疗(润肤剂、角质溶解剂、维甲酸)的目的是稳定患者的病情,维持最佳的生活质量。截至 2023 年,全球约有 60 例 IFAP 综合征病例,而俄罗斯没有。这名 2 岁 3 个月大的女孩患有角化病、毛囊角化过度症、畏光伴流泪和脱发。根据病史、临床表现和全外显子组测序结果,确定了 "毛囊性鱼鳞病伴角化过度和畏光(IFAP 综合征),2 型,常染色体显性遗传 "的诊断。C>T(p.Arg557Cys NM_001005291.2)。由于该病的临床症状与其他皮肤病相似,因此分子基因检测对确定 IFAP 综合征至关重要。然而,医生在发现出生时或出生后不久即出现毛囊性鱼鳞病并伴有脱发和畏光症状的病例时,需要有临床怀疑,以便及时诊断IFAP综合征,从而避免延误治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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