Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.
Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.
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DOI：
10.1111/pde.15094
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发表时间：
2022-11
影响因子：
1.5
通讯作者：
Choate, Keith A.
中科院分区：
文献类型：
--
作者：
Atzmony, Lihi;Ugwu, Nelson;Hamilton, Claire;Paller, Amy S.;Zech, Loren;Antaya, Richard J.;Choate, Keith A.
关键词：
炎性线状疣状表皮痣是一种罕见的皮肤病，其特征为沿着Blaschko线分布的炎性鳞状斑块。先前报告了2例CARD 14突变的ILVEN病例和1例GJA1突变的病例，以阐明基于ILVEN临床和组织病理学评价诊断的患者队列的遗传原因。我们招募了根据临床和组织病理学标准诊断为ILVEN的患者。对有或没有血液的受影响皮肤进行外显子组测序，并鉴定生殖系和体细胞致病性变体。入组了5例患者。所有人都从出生或幼儿时期就有皮肤病变。2例患者在诊断ILVEN后发生寻常型银屑病。第一个具有种系杂合CARD 14突变和KRT 10中的合子后热点突变。组织学评价未显示表皮角化过度。第二个在HRAS中有一个合子后热点突变。一旦牛皮癣发展，她的ILVEN就会发痒。1例患者根据PMVK的生殖系突变和合子后二次突变被重新诊断为线性汗孔角化症。2例患者基于生殖系NSDHL突变被重新诊断为CHILD痣。ILVEN是一组异质性镶嵌炎性疾病的临床描述符。遗传分析有可能更精确地对ILVEN进行分类，并在某些情况下允许针对发病机制的治疗。
Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disease characterized by pruritic erythematous scaly plaques distributed along the lines of Blaschko. Two cases of ILVEN with CARD14 mutations and 1 case with a GJA1 mutation have been previously reported To elucidate the genetic cause of a cohort of patients diagnosed based on clinical and histopathological evaluation with ILVEN. We recruited patients diagnosed with ILVEN based on clinical and histopathological criteria. Exome sequencing of affected skin with or without blood was performed and germline and somatic pathogenic variants were identified. Five patients were enrolled. All had skin lesions from birth or early childhood. Two patients developed psoriasis vulgaris after the diagnosis of ILVEN. The first had a germline heterozygous CARD14 mutation and a post-zygotic hotspot mutation in KRT10. Histopathological evaluation did not show epidermolytic hyperkeratosis. The second had a post-zygotic hotspot mutation in HRAS. Her ILVEN became itchy once psoriasis developed. One patient was re-diagnosed with linear porokeratosis based on a germline mutation in PMVK and a post-zygotic second-hit mutation. Two patients were re-diagnosed with CHILD nevus based on germline NSDHL mutations. ILVEN is a clinical descriptor for a heterogenous group of mosaic inflammatory disorders. Genetic analysis has the potential to more precisely categorize ILVEN and permits pathogenesis-directed therapies in some cases.
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