Oral findings of two siblings with dyskeratosis congenita

Abstract

Dyskeratosis Congenita (DC) is a rare inherited fatal disorder characterized by classic triad of oral leukoplakia, nail dystrophy and abnormal skin pigmentation. Variable somatic abnormalities may be present like pulmonary, neural, immune, oral complications. Bone marrow failure, pulmonary disease and malignancy are the main mortality causes of disorder. Oral and dental manifestations could be the first signs of DC, but there are a few reports on DC in the dental literature. This paper describes two siblings - 8 year old boy and 10 year old girl - with DC and their systemic, oral and dental conditions. Deep caries, gingival/periodontal problems, hypocalcified areas of teeth were noted. Congenital absence of 4 teeth of male sibling and 12 teeth of female sibling are important features of cases.