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.
D002386:Cataract / Q000175:diagnosis*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D010859:Pigmentation Disorders / Q000175:diagnosis*; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis*; D012871:Skin Diseases / Q000151:congenital* / Q000175:diagnosis*; D013577:Syndrome