Dyskeratosis Congenita: A Report of Two Cases

Abstract

Oral manifestations play an important role in the diagnosis of many systemic conditions. Dyskeratosis congenita (DC) is a rare genodermatosis which exhibits oral leukoplakia, nail dystrophy, and reticular skin pigmentations as its primary features. DC has increased risk of developing constitutional anemias and malignancies and early diagnosis enables the patient to be monitored and proper interventional therapy to be instituted. Hence, dentists need to be aware of the various manifestations of this fatal syndrome. Only few cases have been reported on DC in the dental literature. Two cases of DC are reported here with a brief review of the literature.

Pulmonary fibrosis in dyskeratosis congenita: report of 2 cases

“…However, one of our two cases showed atypical radiologic and histopathologic features for UIP and also revealed quite prominent lymphatic proliferation, the significance of which is not entirely clear. A case study mentioned pulmonary vascular abnormalities in DC without any further elaboration of the details (13,14). A previous study on familial idiopathic interstitial pneumonia (F-IIP) cases enrolled in a national research program reported that, despite fibrosis in all cases, the diagnostic features of UIP were seen in less than 50% (15).…”

Pneumococcal vaccine failure: Can it be a primary immunodeficiency?

“…Other DC manifestations are pulmonary and hepatic fibrosis, with portal hypertension, cerebellar hypoplasia and atresia of the lacrimal ducts 26 27. In the present case, other features can be explained by the disease, such as intrauterine growth restriction in pregnancy, thin hair and dental caries 12 18–21 23–25…”

“…The classic disease triad, present in about 90% of DC cases, includes nail dystrophy, mucosal leukoplakia and changes in skin pigmentation 10–14 17–22 24 25 27. These clinical features are not usually present at birth, but often appear in childhood, with a variable age at diagnosis (median 15 years, range 0–75 years) 10 13 18 25.…”

“…These clinical features are not usually present at birth, but often appear in childhood, with a variable age at diagnosis (median 15 years, range 0–75 years) 10 13 18 25. Skin pigmentation abnormalities and nail dystrophy usually appear before the age of 10 and mucosa leukoplakia most typically begins in the second decade of life, with reported cases of black pigmentation on the leukoplakia lesion 13 14 18 19 22 25 27. In this case, the triad was present already at 4 years of age.…”

“…The most frequent causes of mortality and major complications are bone marrow failure/immunodeficiency (60–70%), pulmonary complications (10–15%) and malignancy (10%) 10–13 18 24 25 27. Bone marrow failure usually develops before the age of 20 12 14 18 22 24.…”