Oral and dental phenotype of dyskeratosis congenita

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.

Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders

“…In total, 65% of DC patients have oral leukoplakia, one symptom of the diagnostic triad. In addition, DC patients may have a decreased root/crown ratio, taurodontism, increased dental caries, hypodontia, thin enamel structure, periodontitis, tooth loss or blunted roots [60]. A study of the ocular manifestations of DC in the NCI cohort reported that 28% of DC patients have an obstructed lacrimal drainage system [61].…”

Dyskeratosis congenita: a rare case report

“…It is mainly found in sun exposed areas of skin. Alopecia of scalp may be associated 7 . In our patient only few hyperpigmented macules were present over face and upper limb.…”

“…Mucosal leucoplakia occurs in approximately 80% of patients and typically involves the buccal mucosa, tongue, and oropharynx 7 . In our case leucoplakia was present over the tongue.…”

Oral findings in Zinsser-Engman-Cole syndrome: a case report.

“…It's a multi-system disorder whose symptoms appear in childhood andleads to death between 16 and 50 years. DC occurs mainly in young male with a male to female ratio of 13/1 and mostly appears between 5 and 12 years [1][2]. This genetic affection is typically characterized by the association of a traditional dermatological triad: Reticular hyper pigmentation, nail dystrophy andleucoplakia of the mucous membranes.…”

“…DC has a poor prognosis, the current treatments remain non satisfactory. Mortality is often associated to severe pancytopenia, development of malignancy and other multisystem complications of the disease [2].…”