DYSKERATOSIS CONGENITA; A CASE REPORT AND REVIEW OF LITERATURE

Dyskeratosis congenita, a rare inherited condition, is estimated to occur in 1 in 1 million people. The disease is characterised by a classic triad: nail dystrophy, reticulate skin pigmentation, and oral leukoplakia. These patients may also exhibit variable extend of pulmonary, gastrointestinal, genitourinary, cerebral, and dental involvement. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. More than 200 individuals have been reported in the literature with dyskeratosis congenita. Since most cases are inherited as X linked recessive disorder DKC in female is rare. Here we present a case of dyskeratosis congenita in a 16 year old female patient, who presented all features of classic triad and few additional skeletal features as well.