The epidermal growth factor receptor (EGFR) is a transmembrane protein with tyrosine kinase signaling activity regulating many essential cellular functions, and loss of function mutations in EGFR result in a life-threatening neonatal syndrome. We present the case of a preterm boy born with intrauterine growth restriction who developed multisystem disease due to a homozygous mutation in the EGFR gene. He experienced a tumultuous and complex clinical course with recurrent skin infections and sepsis, nephrocalcinosis, failure to thrive, severe electrolyte imbalances, rectal perforation, and thrombus formation, and died after 11 months due to renal failure. This case report builds on work recently published in 2020 describing a case series of 18 similar patients and adds to the growing literature describing the severe phenotype and multisystem disease associated with loss of EGFR mutation in the Roma population.

中文翻译：

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与纯合表皮生长因子受体突变相关的新生儿皮肤炎症综合征

表皮生长因子受体 (EGFR) 是一种跨膜蛋白，具有调节许多基本细胞功能的酪氨酸激酶信号活性，EGFR功能缺失突变会导致危及生命的新生儿综合征。我们介绍了一名出生时宫内生长受限的早产男童的案例，他因EGFR纯合子突变而患上多系统疾病基因。他经历了反复的皮肤感染和败血症、肾钙质沉着症、发育迟缓、严重的电解质失衡、直肠穿孔和血栓形成等动荡而复杂的临床过程，并在 11 个月后因肾功能衰竭而死亡。本病例报告以最近于 2020 年发表的描述 18 名相似患者的病例系列的工作为基础，并补充了越来越多的文献，这些文献描述了与罗姆人EGFR突变缺失相关的严重表型和多系统疾病。