Skin changes consisting of erythematous eruptions in a linear pattern are often present at birth and this may be followed by a verrucous stage. The acute, early findings of inflammatory disease eventually subside, ultimately resulting in pigmentary changes that appear in a 'marbled pattern' in young adults. Hypodontia and anodontia may be present. Alopecia and CNS abnormalities are found in nearly half of patients. Skeletal and structural deformities are common in patients with severe neurological deficits. The only sign of this disorder in adult women may be a whorled pattern of scarring alopecia.
As many as 30% of patients have neurological features which may be present in the neonatal period. Seizures of various types occur in 30% of patients. MRI findings include periventricular and subcortical white matter changes, as well as corpus callosum hypoplasia, cerebral atrophy, and cerebellar hypoplasia.