皮囊内移植治疗色素性干皮病1例。

IF 1.7 4区医学 Q3 OPHTHALMOLOGY

BMC Ophthalmology Pub Date : 2025-05-07 DOI:10.1186/s12886-025-04087-8

Yingwei Wang, Li Cai, Hua Feng, Xiaofei Wu, Hongmin Ke, Jerry Ma, Wanmei Tang, Kunling Chen, Qiong Wang

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引用次数: 0

摘要

背景：着色性干皮病（XP）是一种罕见的常染色体隐性皮肤病。XP患者的眼部表现通常包括严重的畏光、结膜炎、角膜混浊、眼表鳞状瘤变（OSSN），常出现在睑裂区。此外，还有其他伴随的眼表病变需要临床注意。病例介绍：我们报告一例独特的色素性干皮病（XP）伴进行性角质层肿瘤，在6年随访期间变大。患者被诊断为XPC基因型角膜巩膜混合性血管瘤，并通过小切口摘取小晶状体获得小晶状体移植成功治疗。结论：以往XP的角膜巩膜肿瘤报道较少，应根据病情进行个体化治疗。

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

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.

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来源期刊

BMC Ophthalmology OPHTHALMOLOGY-

CiteScore

3.40

自引率

5.00%

发文量

441

审稿时长

6-12 weeks

期刊介绍： BMC Ophthalmology is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of eye disorders, as well as related molecular genetics, pathophysiology, and epidemiology.