Dyskeratosis congenita – A case report with review of literature

Dyskeratosis congenita also known as Zinsser-Engman-Cole syndrome, is a rare multisystem inherited syndrome exhibiting marked clinical and genetic heterogenecity. The disease is characterized by triad of reticulate skin hyperpigmentation, nail dystrophy and white plaques typically in the oral cavity. Evidence exists for telomerase dysfunction, ribosome deficiency and protein synthesis dysfunction in this disorder. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications and malignancy. It is important for dentist to know about DKC because leukoplakic lesion as a component of a syndrome is rare. The purpose of reporting this case is to create better awareness among dentists about the multisystem manifestations and orodental abnormalities of this fatal condition that can aid clinicians in early diagnosis. Here we present a case report of 17 year old male patient who presented all features of classical triad and few additional skeletal features.