Epidermal dysplasia and skeletal deformity in congenital poikiloderma (Rothmund-Thomson syndrome)

Two sisters with congenital poikiloderma (Rothmund-Thomson syndrome) are described. One sister developed numerous keratotic lesions on the skin at an early age; these showed histological, ultrastructural and autoradiographic features of dysplastic change. The second sister had severe skeletal involvement in addition to the cutaneous poikiloderma, but no keratotic lesions. The clinical features of these cases demonstrate the variation in phenotypic expression of this disorder within a single family.