Ocular surface biopsies of patients with xeroderma pigmentosum in the United Kingdom: a retrospective observational case series.
Ocular surface biopsies of patients with xeroderma pigmentosum in the United Kingdom: a retrospective observational case series.
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英国色素性干皮病患者的眼表活检：回顾性观察病例系列。
DOI：
10.1136/bjophthalmol-2020-316125
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发表时间：
2021
期刊：
影响因子：
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通讯作者：
Vekinis J
中科院分区：
文献类型：
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作者：
Vekinis J
背景/目的描述英国国家委托的色素性干皮病(XP)服务机构对色素性干皮病(XP)患者进行的所有眼表活检的结果，以及随后诊断的任何眼表疾病的治疗方法。该服务在2010年至2019年期间看到的所有XP患者都被纳入其中，并对那些进行了眼表活检的患者进行了识别。收集了人口统计学、互补亚型(A-G和V)、活检细节、组织病理学分析和后续处理的数据。结果在我们的服务中，108例患者中，17例至少接受了一次眼表活检。来自13名患者的45份活检样本，其中65%是来自互补C亚组(XP-C)的患者。活检分为非标测(临床异常眼表组织)或标测(多个部位，包括临床正常组织)。67%的非标测活组织检查以肿块为指征，46%的患者表现为眼表鳞状瘤。在非标测活检中，67%可见一般的非异常增殖性损害，25%的非标测活检和81%的标测活检中可见黑素细胞改变。47%的活检结果不需要额外的治疗，但在那些需要额外治疗的患者中，50%接受了丝裂霉素C。结论这是报道的XP患者眼表活检的最大系列。它确定了眼表黑素细胞、变性和炎症变化的背景，XP-C患者表现出最严重的影响。我们强调在解释它们的组织病理学和计划后续治疗方面所面临的挑战。
Background/AimsTo describe the results of all ocular surface biopsies performed on patients with xeroderma pigmentosum (XP) under the care of the UK Nationally Commissioned XP Service as well as the treatment of any subsequent ocular surface conditions diagnosed.MethodsRetrospective analysis of medical records. All patients with XP seen by the service from 2010 to 2019 were included and those with ocular surface biopsies were identified. Data was collected on demographics, complementation subgroup (A–G and V), biopsy details, histopathological analysis and subsequent management.ResultsOf 108 patients seen in our service, 17 underwent at least one ocular surface biopsy. 45 biopsy samples were available from 13 patients of which 65% were performed on patients from complementation subgroup C (XP-C). Biopsies were categorised as either non-mapping (clinically abnormal ocular surface tissue) or mapping (multiple sites including clinically normal tissue). 67 percent of non-mapping biopsies had a mass as their indication and 46% showed ocular surface squamous neoplasia. General non-dysplastic damage was seen in 67% of non-mapping biopsies and melanocytic changes were seen in 25% of non-mapping and 81% of mapping biopsies. 47 percent of biopsy outcomes required no additional treatment but, of those that did, 50% received mitomycin C.ConclusionsThis is the largest reported series of ocular surface biopsies in patients with XP. It identifies a background of ocular surface melanocytic, degenerative and inflammatory changes, with patients with XP-C showing the most severe effects. We highlight challenges faced in interpreting their histopathology and in planning subsequent treatments.