Treatment of corneoscleral mixed hemangioma by intrastromal lenticule transplantation in a case of xeroderma pigmentosum: a case report

Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disease. The ocular manifestations in XP patients usually include severe photophobia, conjunctivitis, corneal opacification, ocular surface squamous neoplasia (OSSN) which often appears in the palpebral fissure area. I...

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Main Authors: Yingwei Wang, Li Cai, Hua Feng, Xiaofei Wu, Hongmin Ke, Jerry Ma, Wanmei Tang, Kunling Chen, Qiong Wang
Format: Article
Language:English
Published: BMC 2025-05-01
Series:BMC Ophthalmology
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Online Access:https://doi.org/10.1186/s12886-025-04087-8
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Summary:Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disease. The ocular manifestations in XP patients usually include severe photophobia, conjunctivitis, corneal opacification, ocular surface squamous neoplasia (OSSN) which often appears in the palpebral fissure area. In addition, there are other accompanying ocular surface lesions that require clinical attention. Case presentation We report a unique case of Xeroderma Pigmentosum (XP) with a progressive corneoscleral neoplasm, which become bigger during 6 years of follow-up. The patient was diagnosed with corneoscleral mixed hemangioma with XPC genotype, and was successfully treated by intrastromal lenticule transplantation obtained from small-incision lenticule extraction. Conclusions The corneoscleral neoplasm of XP is rarely reported before, treatment should be personalized according to the disease condition.
ISSN:1471-2415