The diagnosis of<unk>  is established by clinical findings and occasionally by corroborative skin biopsy. Molecular genetic testing of the NEMO IKBKG gene (chromosomal locus Xq28) reveals disease-causing mutations in about 80% of probands. Such testing is available clinically. In addition, females with<unk>  have skewed X-chromosome inactivation; testing for this can be used to support the diagnosis. Many people in the past were misdiagnosed with a second type of<unk> , formerly known as<unk> 1. This has now been given its own name - Hypomelanosis of Ito<unk>  achromians). This has a slightly different presentation: swirls or streaks of hypopigmentation and depigmentation. It is not inherited and does not involve skin stages 1 or 2. Some 33–50% of patients have multisystem involvement — eye, skeletal, and neurological abnormalities. Its chromosomal locus is at Xp11, rather than Xq28.
Incontinentia pigmenti
Dementia praecox
Camel spongiform encephalopathy
Autistica
Multiple evanescent white dot syndrome
Keshan disease
Familial Danish dementia
Semantic dementia