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Incontinentia Pigmenti

Welcome to the Incontinentia Pigmenti Section

Incontinentia Pigmenti is a rare genetic condition involving a mutation in the NEMO gene on the X chromosome.

The condition was named for the way that the pigment accumulates in the skin when it is examined under the microscope.  Incontinentia Pigmenti was reported initially in 1906, but the first complete description was written by Bloch and Sulzberger in 1928.  “Bloch-Sulzberger Syndrome” is another name commonly used for Incontinentia Pigmenti; other names are Bloch-Siemens Incontinentia Pigmenti, Melanoblastosis Cutis Linearis, and the Pigmented Dermatosis, Siemens-Bloch type.  All these names describe the same condition which we call Incontinentia Pigmenti.  Incontinentia Pigmenti has not been studied in great detail until recently, so the information about it has been both limited and confusing when read historically.

As Incontinentia Pigmenti affects the ectodermal structures, the ED Society recognise Incontinentia Pigmenti as a form of Ectodermal Dysplasia and therefore support individuals and families with this condition.

It is important to note that an eye examination is highly recommended for newborns immediately after birth – please read the Symptoms of Incontinentia Pigmenti which advises the regularity of eye examinations and explains in more detail the changes in the ectodermal structures.

If you require support which you cannot find on our website, or if you just want to talk to someone who knows what you are going through, please do not hesitate to contact us info@edsociety.co.uk or telephone 01242 261332. We are here to help