Background

Xeroderma pigmentosum (XP) is a rare genetic disease characterized by extreme photosensitivity, resulting in a higher incidence of cutaneous tumors. Reflectance confocal microscopy (RCM) is a noninvasive imaging method for diagnosing cutaneous lesions.

Objective

To explore the application of RCM in the follow-up of patients with XP.

Methods

Patients with XP underwent RCM for suspicious lesions from January 2010 through April 2019. Lesions with malignant RCM features were excised, and the results were compared with their histopathologic features. Benign lesions on RCM were monitored every 3 months. We recorded the confocal features that were related to malignancy and specifically to melanoma.

Results

A total of 61 suspicious lesions from 13 patients with XP were included. Thirty-three lesions (54%) were malignant (14 melanomas, 15 basal cell carcinomas, and 4 squamous cell carcinomas).

Nonvisible papillae (OR, 11.8; 95% CI, 2.6-53.1; P = .001) and atypical cells at the dermoepidermal junction (OR, 11.7; 95% CI, 2.7-50.3; P = .001) were independent predictors of malignancy.

Limitations

There were limited numbers of patients and lesions. Most cases were retrospectively included, and some did not have a histologic analysis.

Conclusions

RCM is a valuable tool in the follow-up of patients with XP, reducing the need for excisions by 35%.

中文翻译：

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色素干性皮肤病患者的皮肤镜下可疑病变的体内共聚焦显微镜检查：一项横断面研究。

背景

色素干皮症（XP）是一种罕见的遗传疾病，其特征是极度的光敏性，导致皮肤肿瘤的发生率更高。反射共聚焦显微镜（RCM）是一种用于诊断皮肤病变的非侵入性成像方法。

客观的

探索RCM在XP患者随访中的应用。

方法

XP患者从2010年1月至2019年4月接受可疑病变的RCM。切除具有恶性RCM特征的病变，并将结果与​​组织病理学特征进行比较。每3个月监测一次RCM上的良性病变。我们记录了与恶性肿瘤有关的共聚焦特征，特别是与黑色素瘤有关。

结果

包括来自13例XP的61例可疑病变。有33个病变（占54％）是恶性的（14个黑色素瘤，15个基底细胞癌和4个鳞状细胞癌）。

不可见的乳头（OR，11.8; 95％CI，2.6-53.1; P  = .001）和真皮表皮交界处的非典型细胞（OR，11.7; 95％CI，2.7-50.3; P  = .001）是恶性的独立预测因子。

局限性

患者和病变的数量有限。多数病例被回顾性纳入，有些病例没有组织学分析。

结论

RCM是对XP患者进行随访的重要工具，可减少35％的切除需求。