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Secukinumab in the treatment of a child with congenital ichthyosiform erythroderma with ABCA12 mutation.

作者信息

Albela Henrietta, Leong Kin Fon

机构信息

Paediatric Dermatology Unit, Department of Paediatrics, Women & Children Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.

出版信息

Int J Dermatol. 2023 Jan;62(1):e27-e29. doi: 10.1111/ijd.16378. Epub 2022 Aug 7.

DOI:10.1111/ijd.16378
PMID:35933655
Abstract
摘要

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Secukinumab in the treatment of a child with congenital ichthyosiform erythroderma with ABCA12 mutation.司库奇尤单抗治疗一名患有ABCA12基因突变的先天性鱼鳞病样红皮病儿童。
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Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations.听力障碍：一名患有ABCA12基因突变的先天性鱼鳞病样红皮病患者的继发症状。
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Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.与先天性鱼鳞病样红皮病相关的新型三磷酸腺苷（ATP）结合盒亚家族A成员12（ABCA12）突变。
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ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma.ABCA12是非大疱性先天性鱼鳞病样红皮病的主要致病基因。
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Novel ABCA12 compound heterozygous mutations identified in a patient with congenital ichthyosiform erythroderma and aortopulmonary window.在一名患有先天性鱼鳞病样红皮病和主肺动脉窗的患者中鉴定出新型ABCA12复合杂合突变。
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Mild case of congenital ichthyosiform erythroderma with periodic exacerbation: Novel mutations in ABCA12 and upregulation of calprotectin in the epidermis.先天性鱼鳞病样红皮病伴周期性加重的轻症病例：ABCA12基因的新突变及表皮中钙卫蛋白的上调
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Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.在两例与多发性皮肤恶性肿瘤相关的非大疱性先天性鱼鳞病样红皮病病例中鉴定出新型ABCA12突变。
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Mutational Spectrum of the Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.常染色体隐性遗传先天性鱼鳞病 64 例患者的 基因及其基因型-表型相关性的突变谱。
Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717.