表现为部分角膜缘干细胞缺乏的津瑟-恩格曼-科尔综合征
Zinsser-Engman-Cole Syndrome Presenting as Partial Limbal Stem Cell Deficiency.
作者信息
Srirampur Arjun, Mansoori Tarannum, Rebbala Pravalika
机构信息
Department of Cornea, Anand Eye Institute, Hyderabad, IND.
Department of Glaucoma, Anand Eye Institute, Hyderabad, IND.
出版信息
Cureus. 2020 Oct 13;12(10):e10933. doi: 10.7759/cureus.10933.
PURPOSE
To report a case of partial limbal stem cell deficiency and characteristic mucocutaneous triad in an 11-year-old boy.
METHODS
Systemic features along with ocular features are described in this case report.
RESULTS
Ophthalmic evaluation showed bilateral partial limbal stem cell deficiency (LSCD) and systemic examination revealed characteristic mucocutaneous triad of oral leukoplakia, skin hypopigmentation, and nail dystrophy suggestive of the Zinsser-Engman-Cole syndrome or dyskeratosis congenita.
CONCLUSIONS
Thorough ocular and systemic evaluation can help in clinching the diagnosis of this rare condition. Timely referral to a dermatologist and hemato-oncologist would help in the management of life-threatening complications like malignancy or progressive bone marrow failure.
目的
报告一例11岁男孩的部分角膜缘干细胞缺乏症及特征性黏膜皮肤三联征。
方法
本病例报告描述了全身特征及眼部特征。
结果
眼科评估显示双侧部分角膜缘干细胞缺乏（LSCD），全身检查发现特征性的黏膜皮肤三联征，即口腔白斑、皮肤色素减退和指甲营养不良，提示津瑟-恩格曼-科尔综合征或先天性角化不良。
结论
全面的眼部和全身评估有助于确诊这种罕见疾病。及时转诊至皮肤科医生和血液肿瘤学家有助于处理如恶性肿瘤或进行性骨髓衰竭等危及生命的并发症。
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