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Dyskeratosis congenita with corneal limbal insufficiency
Author(s) -
Aslan Deniz,
Ozdek Sengul,
Camurdan Orhun,
Bideci Aysun,
Cinaz Peyami
Publication year - 2009
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21960
Subject(s) - medicine , dyskeratosis congenita , dermatology , dyskeratosis , premature aging , corneal diseases , cornea , corneal dystrophy , ophthalmology , hyperkeratosis , telomere , physiology , dna , genetics , biology
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. Pediatr Blood Cancer 2009;53:95–97. © 2009 Wiley‐Liss, Inc.