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• W2054399478 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." @default.
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• W2054399478 date "2008-06-28" @default.
• W2054399478 modified "2023-10-12" @default.
• W2054399478 title "Oral and dental phenotype of dyskeratosis congenita" @default.
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• W2054399478 doi "https://doi.org/10.1111/j.1601-0825.2007.01394.x" @default.
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