Rothmund-Thomson syndrome or poikiloderma congenitale is a rare autosomal recessive disorder attributed to a gene defect on chromosome 8 and characterized by early photosensitivity and subsequent skin and systemic manifestations. Rarely, the skin changes may be present at birth or appear as late as 2 years of age. The early phase begins as red patches or edematous plaques, sometimes with blistering, usually involving first the cheeks and spreading to other areas of the face, extremities, and buttocks.
Most patients exhibit truncal and flexural sparing.
Patients may have sparse hair, premature canities, and dystrophic or atrophic nails. Acral hyperkeratotic lesions on the elbows, knees, hands, and feet may develop at puberty. Dental abnormalities include malformation, microdontia, and failure of eruption. Patients usually have short stature which ranges from dwarfism to small build. About half of the patients have skeletal abnormalities, most frequently a characteristic facies with frontal bossing, saddle nose, and micrognathia.