Rajagopal Rama, Srinivasan Bhaskar, Iyer Geetha, Agarwal Manokamna
Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India.
Eur J Ophthalmol. 2023 Jul;33(4):NP9-NP12. doi: 10.1177/11206721221100903. Epub 2022 May 9.
To report a rare presentation of bilateral, coexisting ocular surface disease in a case of Xeroderma pigmentosum and its successful management.
Case report.
A 21-year-old male with Xeroderma pigmentosum presented with bilateral ocular surface squamous neoplasia (OSSN) along with central guttae in the right eye and corneal decompensation of the left eye. Subsequently, the patient developed dry eyes and lid margin keratinization in both eyes followed by perforation in the left eye. Sequential procedures both medical and surgical, including excision of the tumour, corneal transplantation and mucous membrane grafting addressing each of these ocular surface issues resulted in a successful outcome. There was no recurrence of the tumour over 3 years. Corneal transplantation is preferably done after a minimum of 6 months following excision. Mucous membrane grafting performed for progressive lid margin keratinization resulted in surface stabilization.
In Xeroderma Pigmentosum, multiple ocular surface features can rarely coexist and be bilateral. Periodic evaluation of the surface for tumours, progressive dry eyes and endothelial function is recommended as a part of routine evaluation in Xeroderma pigmentosum. Surface procedures should precede intraocular intervention. Sequential management can result in successful outcomes.
报告一例着色性干皮病患者双侧并存眼表疾病的罕见表现及其成功治疗。
病例报告。
一名21岁的着色性干皮病男性患者，双眼出现眼表鳞状上皮肿瘤（OSSN），右眼伴有中央角膜小滴，左眼角膜失代偿。随后，患者双眼出现干眼和睑缘角化，左眼继而穿孔。通过一系列包括肿瘤切除、角膜移植和黏膜移植等在内的内科及外科手术，针对每一个眼表问题进行处理，最终取得了成功的治疗效果。术后3年肿瘤无复发。角膜移植最好在切除术后至少6个月进行。针对进行性睑缘角化实施的黏膜移植使眼表得以稳定。
在着色性干皮病中，多种眼表特征很少双侧并存。建议作为着色性干皮病常规评估的一部分，定期评估眼表有无肿瘤、进行性干眼和内皮功能。眼表手术应先于眼内干预。序贯治疗可取得成功的治疗效果。
