Yang Zhou, Xu Zhe, He Rui, Xiang Xin, Zhang Bin, Ma Lin
Department of Dermatology, Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China.
Department of Dermatology Shunyi Maternal and Children's Hospital of Beijing Children's Hospital Beijing China.
Pediatr Investig. 2023 Jul 15;7(3):168-176. doi: 10.1002/ped4.12391. eCollection 2023 Sep.
Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the , , or genes. In KPI, the relationship between genotype and phenotype is complex.
To analyze the clinical manifestations and gene mutations in Chinese patients with KPI.
Clinical data were collected from 13 children diagnosed with KPI, and peripheral blood DNA samples were extracted from both the patients and their parents Next-generation sequencing was performed using a congenital ichthyosis multi-gene panel, and the selected variants in the patients and their parents were further validated using the Sanger sequencing method.
Genetic analysis identified missense mutations in either or in ten patients exhibiting varying degrees of severity and distinct features of epidermolytic ichthyosis. A missense hotspot mutation in was identified in one patient with superficial epidermolytic ichthyosis. Additionally, two truncation mutations in were detected, leading to the development of generalized ichthyosiform erythroderma. Ear malformation and ectropion at birth, scalp involvement, and palmoplantar hyperkeratosis were observed as early signs of ichthyosis with confetti.
We analyzed the genotype-phenotype correlations in KPI, revealing that the types and locations of different mutations are associated with distinct phenotypic characteristics. Oral acitretin could be considered a treatment option for severe patients at an appropriate dosage and timing.
角蛋白病性鱼鳞病（KPI）是一组主要由 、 或 基因突变引起的常染色体显性遗传性皮肤病。在KPI中，基因型与表型之间的关系很复杂。
分析中国KPI患者的临床表现和基因突变情况。
收集13例诊断为KPI的儿童的临床资料，从患者及其父母中提取外周血DNA样本。使用先天性鱼鳞病多基因检测板进行二代测序，并使用桑格测序法进一步验证患者及其父母中选定的变异。
基因分析在10例表现出不同程度严重程度和表皮松解性鱼鳞病不同特征的患者中鉴定出 或 中的错义突变。在1例浅表性表皮松解性鱼鳞病患者中鉴定出 中的一个错义热点突变。此外，在 中检测到两个截短突变，导致全身性鱼鳞病样红皮病的发生。出生时耳部畸形和睑外翻、头皮受累以及掌跖角化过度被观察为点状鱼鳞病的早期体征。
我们分析了KPI中的基因型-表型相关性，发现不同突变的类型和位置与不同的表型特征相关。口服阿维A在适当的剂量和时机可被视为重症患者的一种治疗选择。
