Incontinentia Pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a genetic condition involving a mutation in a gene (NEMO) on the X chromosome. It affects ectodermal structures (hair, skin, nails and teeth) and also the eyes and nervous system.
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 IP affects the ectodermal structures, the Ectodermal Dysplasia Society recognise IP as a form of ectodermal dysplasia and therefore support individuals and families with this condition. In some countries there are separate IP support groups and societies, but in the UK the Ectodermal Dysplasia Society is the recognised support group for IP.
What is Incontinentia Pigmenti
The ectodermal dysplasias (EDs) are a group of inherited disorders that involve defects of the hair, nails, teeth and sweat glands. Depending on the particular syndrome, ectodermal dysplasia (ED) can also affect the skin, the lens or retina of the eye, parts of the inner ear and other parts of the body.
Incontinentia Pigmenti is an ectodermal dysplasia and is a rare genetic disorder characterised by abnormalities of the skin, hair, teeth, eyes and nails and may be linked with neurological problems in some cases.
IP largely affects girls and only in exceptional circumstances does it affect boys.
If the affected child or adult is troubled by appearance changes, Changing Faces supply useful support materials which are available from www.changingfaces.org.uk.
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.