Incontinentia Pigmenti also known as Bloch-Siemens syndrome is a genetic disorder that affects the central nervous system, skin, hair, teeth and nails. Discoloured skin or lesions, abnormal shape of teeth, visual problems and delays in cognitive development or mental retardation has been observed in patients.
HOW IS INCONTINENTIA PIGMENTI DIAGNOSED?
Since this is a genetic disorder the testing of the NEMO IKBKG gene would revel incontinentia pigmenti. A skin biopsy could help in confirming this diagnosis.
HOW IS INCONTINENTIA PIGMENTI TREATED?
There is no treatment for Incontinentia Pigmenti. Only symptomatic relief may be provided. In case of seizures of muscle spasms due to Incontinentia Pigmenti, medication may be prescribed for controlling them
DID YOU KNOW?
Though this problem is not threatening for life, it is actually quite problematic because of constant skin, hair and dental issues that require medical intervention.