This is a clinically heterogeneous disorder. Skin atrophy with pigmentary changes, telangiectasia, short stature, premature aging, and skeletal abnormalities are characteristic. There is an increased risk of malignancy, particularly osteosarcomas and skin cancer. Saddle nose, sparse hair, hypogonadism, dysplastic nails, and teeth anomalies have also been described.
The skin is usually normal at birth but an erythematous rash typically appears in the first six months of life accompanied by swelling and blistering. Eventually areas of hypo- and hyperpigmentation appear in a reticulated pattern with spots of punctate atrophy and telangiectasia. Hyperkeratosis of the soles of the feet is common. The skeletal abnormalities of dysplasia, radial ray defects, and missing bones are often evident at birth while osteopenia and delayed bone maturation are evident later.