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Case Reports in Dentistry
Volume 2014, Article ID 454128, 5 pages
Case Report

Oral and Dental Findings of Dyskeratosis Congenita

Faculty of Dentistry, Department of Pedodontics, Istanbul University, 34093 Istanbul, Turkey

Received 9 September 2014; Accepted 7 December 2014; Published 24 December 2014

Academic Editor: Pablo I. Varela-Centelles

Copyright © 2014 Mine Koruyucu et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Dyskeratosis congenital (DC) is a rare condition characterized by reticulate skin hyperpigmentation, mucosal leukoplakia, and nail dystrophy. More serious features are bone marrow involvement with pancytopenia and a predisposition to malignancy. The purpose of this case report is to describe the oral and dental findings in children with DC syndrome. A 10-year-old male diagnosed with DC was admitted because of extensive caries and toothache. Inadequate oral hygiene and extensive caries were observed in oral examination of the patient. Plaque accumulation was seen in gingival border of maxillary teeth. Papillary atrophy on the tongue was observed. Short and blunted roots of mandible incisors and upper and lower molars were determined on the radiographic examination. Dryness on the lips and commisuras, ectropion on his eyes, and epiphora were observed. Hematologic tests were performed and showed aplastic anemia at the age of 2. At the age of 4, the bone marrow transplantation was performed. Dermatological findings occurred after the bone marrow transplantation. The skin of the patient was thin, dry, and wrinkled in some areas. He had palmoplantar hyperkeratosis and syndactylia on his fingers. Endodontic treatment procedures were applied and other extensive caries are still being restored. The patient will be given full preventive care during regular follow-up. Oral hygiene was improved to the optimum level.