Poikiloderma congenitale-an early case of rothmund-thomson's syndrome

A case of congenital poikiloderma is presented. Two types of congenital poikiloderma can be differentiated on the basis of onset of symptoms and configuration of skin lesions, i.e. Rothmund-Thomson's type and Wodniansky's type. The case presented here is of the Rothmund-Thomson's type, but showed only minor abnormalities apart from skin changes and hair loss. A slightly elevated concentration of lysine and cystine was found in the urine of our patient.