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首页> 外文期刊>American Journal of Dermatopathology >Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings
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Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings

机译：Netherton综合征的皮肤活检：大量研究的组织学回顾和新发现

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Netherton syndrome (NS) is a severe genetic skin disorder, with often delayed or misleading clinical signs. The histological features of skin biopsies, usually described as a psoriasiform hyperplasia, have only been reported in isolated case reports or small case series. The aim of this study is to define, for the first time, the precise histological pattern of cutaneous lesions, in a large cohort of skin biopsies from confirmed NS patients. The study included 80 consecutive skin biopsies from 67 patients taken between January 1995 and June 2014. All were from confirmed NS patients with either a negative lympho-epithelial Kazal-type-related inhibitor (LEKTI) immunohistochemistry and/or molecular confirmation by identified mutation in SPINK5. In this cohort, the most frequent histological finding was also psoriasiform hyperplasia, but there were additional, less common, or previously unreported findings, including compact parakeratosis with large nuclei, subcorneum or intracorneum splitting, presence of clear cells in the upper epidermis or stratum corneum, dyskeratosis, dermal infiltrate with neutrophils and/or eosinophils, and dilated blood vessels in the superficial dermis. An early confirmation of the diagnosis of NS is essential for improved patient management. Thus, in the situation of a patient with an unknown skin disorder and non specific clinical presentation, the dermatopathologist may now be able to suggest the diagnosis of NS based on these newly reported characteristics. However, LEKTI immunohistochemistry remains the essential diagnostic investigation in cases with misleading or nonspecific histological features and is mandatory for the definitive diagnosis of NS in all patients.
机译：Netherton综合征（NS）是一种严重的遗传性皮肤病，通常具有延迟或误导的临床症状。皮肤活检的组织学特征通常被描述为牛皮癣样增生，仅在单独的病例报告或小病例系列中才报道。这项研究的目的是首次确定来自确诊的NS患者的大量皮肤活检样本中皮肤病变的精确组织学模式。该研究包括1995年1月至2014年6月之间的67例患者的80次连续皮肤活检。所有患者均来自经证实的NS患者，这些患者的淋巴-上皮Kazal型相关抑制剂（LEKTI）免疫组织化学阴性和/或通过鉴定的突变确定了分子SPINK 5。在这一队列中，最常见的组织学发现也是牛皮癣样增生，但还有其他，较少见或以前未报告的发现，包括紧凑的角化不全，大核，角质层或角质层裂开，上表皮或角质层中存在透明细胞，角化不全，真皮被嗜中性粒细胞和/或嗜酸性粒细胞浸润以及真皮浅层血管扩张。对NS诊断的早期确认对于改善患者管理至关重要。因此，在患有未知皮肤疾病和非特定临床表现的患者的情况下，皮肤病理学家现在可能能够基于这些新报道的特征来建议对NS的诊断。但是，对于具有误导性或非特异性组织学特征的病例，LEKTI免疫组织化学仍然是必不可少的诊断研究，并且对于所有患者的NS的明确诊断是必不可少的。

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