Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2008 Jul;14(5):419-27.
doi: 10.1111/j.1601-0825.2007.01394.x.

Oral and dental phenotype of dyskeratosis congenita

J C Atkinson  1 , K E Harvey, D L Domingo, M I Trujillo, J P Guadagnini, S Gollins, N Giri, T C Hart, B P Alter
Affiliations

Oral and dental phenotype of dyskeratosis congenita

J C Atkinson et al. Oral Dis. 2008 Jul.

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1. Varied presentation of leukoplakia in patients with dyskeratosis congenita
1A: Erythema, leukoplakia and papillary atrophy of the tongue in a 9 year old female, mutant gene unknown. 1B: Mild Papillary atrophy and leukoplakia of the tongue in a reticular pattern in a 10 year old male with mutant DKC1. 1C. Plaque-like leukoplakia on the dorsum of the tongue in a 21 yr old male, mutant gene unknown. 1D. Plaque-like leukoplakia with brown pigmentation of tongue in a patient with mutantb TERC.
Figure 2
Figure 2
Erythema and diffuse leukoplakia of the buccal mucosa in a 10 year old male with mutant DKC1.
Figure 3
Figure 3
Panorex radiograph from a 13-year-old male with mutant DKC1 showing decreased root/crown ratios in the posterior teeth and taurodontism
Figure 4
Figure 4
Radiograph from a 25-yr-old with mutant TERT and generalized decreased root/crown ratios in the posterior teeth.
See this image and copyright information in PMC

References

    1. Zinsser F. Atrophia cutis reticularis cum pigmentatione, dystrophia et leukoplakia oris. Ikonogr Dermatol. 1910;5:219–23. - PubMed
    1. Alter BP. Inherited Bone Marrow Failure Syndromes. In: Nathan D, Orkin SH, Ginsburg D, Look AT, editors. Hematology of Infancy and Childhood. 6. Saunders; Philadelphia: 2003. pp. 281–365.
    1. Vulliamy T, Dokal I. Dyskeratosis congenita. Semin Hematol. 2006;43:157–66. - PubMed
    1. Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone A, Dokal I. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis. 2005;34:257–63. - PubMed
    1. Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet. 2004;36:447–9. - PubMed

Publication types

MeSH terms