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. Acrokeratotic poikiloderma of Weary, which probably has an autosomal dominant inheritance pattern, is characterized by widespread eczematous dermatitis and acral bullae in infancy with the later development of keratoses. Bloom syndrome, an autosomal recessive disease, is characterized by telangiectases and light sensitivity with erythema on the face and other sun-exposed areas. These patients do not have a true poikiloderma. Cockayne syndrome patients develop a photodistributed erythema, atrophy, and hyperpigmentation.