Incontinenta pigmenti is a rare and badly-known genetic disease known as an “orphan” disease, which affects the skin, the hair, the teeth and the central nervous system. The condition was named so because of the way the skin looks under the microscope (pigment incontinence).

Its name comes from the anomalies observed in the skin under microscopic examination.
This disease can be observed mostly in baby girls, and is generally inherited from the parents.
The skin biopsy confirms the diagnosis. It can be diagnosed from an examination of the skin.
One can observe blisters and boils -very much like those of chickenpox- appearing on the skin of the baby girl shortly after birth.

In 2000 the NEMO gene (NEMO standing for NF-kappaB essential modulator) was identified by a consortium of researchers as being responsible for IP. This gene is a major factor adjusting immune, inflammatory and apoptotic
(self destruction of abnormal cells) processes. In people with IP the X linked NEMO gene shows some disorders: some compartments in the chain are missing.

People with IP, their parents, children, relatives and  friends can join ‘Incontinenta Pigmenti France’ or IPF, an association established in May 2001 and aiming at a number of different goals:

• to support /help the people with IP and their families
• to enable them to share experience and get to the information available about IP
• to help them overcome a prevalent feeling of isolation
• to let the disease be more widely-known  and promote a better understanding of IP
• to provide information to the medical community and professionals
• to encourage and support research and medical investigation
• to organise events for fund-raising

IPF is sponsored by a Scientific Advisory Council  with Doctors and Professors working at ‘Necker enfants malades’ hospital  ( Necker sick children hospital) in Paris
The association is an active member of two organisations:

• l’Alliance des maladies rares’ (Alliance for rare diseases)
• la Fédération des maladies orphelines’ (Organisation for orphan diseases)
  

It works closely  with Incontinenta Pigmenti International Foundation (IPIF) in the USA.
 

"The information provided on http://www.incontinentiapigmenti.fr is designed to support, not replace, the relationship that exists between a patient/site visitor and his/her health professional."