Introduction
Rothmund-Thomson Syndrome(RTS) is a rare autosomal recessive disorder, usually resulting from mutation in RecQL helicase gene that functions during DNA repair.1 It presents in infancy with erythematous macule or plaque often associated with blisters and edema that progress to develop poikiloderma initially involving face and later to other sun-exposed sites. The characteristic onset and progression of poikiloderma helps to differentiate it from other causes of early onset poikiloderma.2 Further it is characterized by heterogenous features like short stature, skeletal abnormalities, cataract, premature ageing, abnormalities of hair, nail and teeth.2 It is associated with increased risk of osteosarcoma in childhood, cutaneous epithelial neoplasm and hematological malignancies in adults.2