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