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Incontinentia Pigmenti

How is it diagnosed?

IP is diagnosed by the characteristic clinical signs of the disorder and a skin biopsy can provide confirmation. In about eighty per cent of people mutations can be identified in the NEMO gene for which tests are available. Tests can be used to confirm a diagnosis or carrier status.

View What are the causes? What are the causes?  |  How is it treated? View How is it treated?

Medical text written October 2005 by Contact a Family. Approved October 2005 by Dr H Stewart, Consultant Clinical Geneticist and Lead Clinician, Churchill Hospital, Oxford, UK. Additional ophthalmic information written March 2006 by Mr C. E. Willoughby, Consultant Ophthalmic Surgeon, Royal Victoria Hospital, Belfast, UK and Senior Lecturer in Ophthalmology, Queen's University, Belfast, UK.

 

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