Oral and dental phenotype of dyskeratosis congenita

Authors

  • JC Atkinson,

    1. Clinical Research Core, National Institute of Dental and Craniofacial Research, Department of Health and Human Services, National Institutes of Health, Bethesda, MD, USA
    Search for more papers by this author
    • *

      These authors contributed equally to this study.

  • KE Harvey,

    1. Clinical Research Core, National Institute of Dental and Craniofacial Research, Department of Health and Human Services, National Institutes of Health, Bethesda, MD, USA
    Search for more papers by this author
    • *

      These authors contributed equally to this study.

  • DL Domingo,

    1. Clinical Research Core, National Institute of Dental and Craniofacial Research, Department of Health and Human Services, National Institutes of Health, Bethesda, MD, USA
    Search for more papers by this author
  • MI Trujillo,

    1. Clinical Research Core, National Institute of Dental and Craniofacial Research, Department of Health and Human Services, National Institutes of Health, Bethesda, MD, USA
    Search for more papers by this author
  • J-P Guadagnini,

    1. Clinical Research Core, National Institute of Dental and Craniofacial Research, Department of Health and Human Services, National Institutes of Health, Bethesda, MD, USA
    Search for more papers by this author
  • S Gollins,

    1. Clinical Research Core, National Institute of Dental and Craniofacial Research, Department of Health and Human Services, National Institutes of Health, Bethesda, MD, USA
    Search for more papers by this author
  • N Giri,

    1. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, National Institutes of Health, Bethesda, MD, USA
    Search for more papers by this author
  • TC Hart,

    1. Clinical Research Core, National Institute of Dental and Craniofacial Research, Department of Health and Human Services, National Institutes of Health, Bethesda, MD, USA
    Search for more papers by this author
  • BP Alter

    1. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Department of Health and Human Services, National Institutes of Health, Bethesda, MD, USA
    Search for more papers by this author

JC Atkinson, DDS, Center for Clinical Research, National Institute of Dental and Craniofacial Research, 45 Center Drive, Room 4AS25L, MSC 6401, Bethesda, MD 20892-6401, USA. Tel: 301 435 7908, Fax: 301 480 8322, E-mail: jatkinso@mail.nih.gov

Abstract

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome that is characterized by lacey reticular hyperpigmentation of the skin, dystrophic nails, mucous membrane leukoplakia and pancytopenia. Diagnosis may be delayed until clinical signs are apparent. Severe pancytopenia frequently causes early mortality of DC patients, who have an increased risk of developing oropharyngeal squamous cell carcinoma. Several case reports have described oral changes in DC, which include oral leukoplakia, increased dental caries, hypodontia, thin enamel structure, aggressive periodontitis, intraoral brown pigmentation, tooth loss, taurodontism and blunted roots. We determined the prevalence of these previously reported findings in a cohort of 17 patients with DC and 23 family members. The most common oral changes in DC patients were oral leukoplakia (65% of the entire DC population), decreased root/crown ratio (75% with sufficient tooth development) and mild taurodontism (57% with sufficient tooth development). From the clinical perspective, a diagnosis of DC or other inherited bone marrow failure syndrome should be considered in young persons with oral leukoplakia, particularly those with no history of smoking. Multiple permanent teeth with decreased root/crown ratios further suggest DC.

Ancillary