Neurocutaneous genetic disorder causing discolored skin, with involvement of the teeth, brain, hair eyes and nails.
Most cases caused by NEMO (NF-kappaB essential modulator) gene mutations.
Males are more severely affected than are females.
Discoloration of skin caused by deposits of melanin.
Most newborns develop skin discoloration within the first two weeks of birth.
Skin pigmentation involves the trunk and extremities and appears gray-blue-brown with marbling and wavy lines.
Skin pigmentation fades with age.
Neurologic changes include cerebral atrophy, central white matter cavities and cerebeller cortical neuron loss.
Approximately 20% have impaired motor development, muscle weakness, mental retardation and seizures.
Visual problems, cataracts, crossed eyes and visual loss likely.
Missing or peg shaped teeth commonly occur.
Skin abnormalities usually disappear without treatment by adolescence or young adulthood..