伴有角膜缘功能不全的先天性角化不良。
Dyskeratosis congenita with corneal limbal insufficiency.
作者信息
Aslan Deniz, Ozdek Sengul, Camurdan Orhun, Bideci Aysun, Cinaz Peyami
机构信息
Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey.
出版信息
Pediatr Blood Cancer. 2009 Jul;53(1):95-7. doi: 10.1002/pbc.21960.
PMID:19199342
Abstract
We describe a newly diagnosed Turkish adolescent female with Dyskeratosis congenita along with the novel ocular finding of corneal limbal insufficiency. Corneal limbal insufficiency was suggested to be a premature aging sign resulting from a deficiency in corneal stem cell activity, a biological process caused by underlying telomeric defect in this disease.
摘要
我们描述了一名新诊断出患有先天性角化不良的土耳其青少年女性，同时伴有角膜缘功能不全这一新颖的眼部表现。角膜缘功能不全被认为是由角膜干细胞活性不足导致的一种早衰迹象，而这种生物学过程是由该疾病潜在的端粒缺陷引起的。
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