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  Laura M Richter
  President and CEO
  30 East 72nd Street
  Suite 16
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  10021 U.S.A.

  Mailing Address:
  78 Saint Moritz Dr
  Erial, NJ 08081 U.S.A.

  Tel: 212 452 1231
  Fax: 212 452 1231
  Email: ipif@ipif.org

  Susanne Bross Emmerich
  Founder

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  Incontinentia Pigmenti International Foundation



IP PROTOCOLS

Current IP Protocols for all ages and Care Teams that we highly suggest for everyone to have in order to receive the best care are located below for you with additional helpful links.

Children’s Hospitals, Teaching Hospitals and Universities in all major cities around the world will have the best care for everyone affected by IP as their resources are larger then smaller hospitals for diagnosis and continued care and understanding of IP.

A specialty team should be put in place consisting of an Ophthalmologist, Pediatric Ophthalmologist or Retinal Disease Specialist, Neurologist, Dermatologist, and a Geneticist. Additional specialists may also be needed depending on each case of IP.

EYES -
Ophthalmologist, Pediatric Ophthalmologist or Retinal Disease Specialist

The IP eye exam is imperative to be completed as soon as possible once IP is known

REQUIRED EYE EXAMINATIONS FOR THOSE AFFECTED WITH IP
A dilated fundus exam as soon after birth as the neonatologist or anesthesiologist thinks it is safe. Sometimes, if there are any suspected retinal abnormalities, an examination under anesthesia is required. The important thing is for the ophthalmologist to look at the optic nerve head, the macula (in the center of the retina), and the far peripheral retina where, the typical pathologic events tend to occur.

 
This should be done before the babies leave the hospital.
UNLESS there is a known allergy to fluorescein in the family or in the patient, a fluorescein angiogram is highly recommended, regardless of age, initially and at follow-up, and unless the retinal specialist decides the view of the retina is easily and completely obtainable without the angiogram. Frequency of repeat angiograms is based on the retinal specialist’s interpretation of the retinal findings obtained with routine examination techniques.

Severe retinal disease is often associated with brain dysfunction and is a marker to pursue x-ray scanning studies of the head. With respect to the eyes themselves, some babies with IP, and even some older patients, might benefit from laser treatment in an effort to prevent retinal detachment or vitreous hemorrhage from the consequences of the typical retinal neovascularization that occurs in this disorder.

If eyes are okay upon the initial full IP eye exam and there after -
eye appointments with dilation follow-ups should be scheduled monthly until age four months, then every three months from age four months to one year, every six months from age one to three years, and annually after age three years for life.

If an issue or question should arise at anytime during an exam immediately see a retinal specialist and refer back to the full IP Eye Exam

If any head trauma occurs at any time throughout like an eye exam is highly suggested as soon as possible for both partial and full retina detachment.

The majority of IP patients have normal vision. Some problems, like near- and far- sightedness, are common in IP, but these are probably no more frequent than in the general population without IP. The classical eye finding in IP is an abnormality in the growth of blood vessels in the inside of the eye (the retina). Growth of abnormal blood vessels and the associated scarring can cause loss of vision but may be treated if recognized early enough.
For this reason, babies diagnosed with IP should have the full IP eye examination immediately after birth and be followed by an ophthalmologist closely. Careful examination by a pediatric ophthalmologist or retinal disease specialist should be done.

Rare eye abnormalities have included small eye (microphthalmos), cataract, and degeneration of the optic nerve (optic atrophy). Permanent visual deficiency or total blindness may occur.

IP Eye Exams are Medical Not Routine for insurance purposes.

If an adult with IP eye abnormalities should become pregnant please discuss this with your current eye doctor as different means of delivery may be required for the safety of your eye sight.

PDF -  http://ipif.org/IP-EYE-EXAMINATION.pdf

BRAIN - Neurologist 
A baseline MRI and MRA with and without contrast are highly suggested as soon as possible. For infants this is recommended to be completed at age 3-6 months old. Learning Disabilities are an affect of IP. At school age if delay or hardships are reported even with a high IQ it is suggested that a neuro psychological exam be completed so schools will implement the appropriate assistance for your child. (IEP)
http://ipif.org/IP-Learning.pdf

* NOTE - It is at each specialists discretion to determine what is in the best interest for their patient depending on their individual health and stability for testing including sedations of any kind.

A neuropsychologist is a physiologist who specializes in understanding the relationship between the physical brain and behavior. The brain is extremely complex, and disorders within the brain or nervous system can alter behavior and cognitive function.

SKIN - HAIR - Dermatologist 
We suggest to keep all stages of the skin for the first year cool and dry. It is imperative to avoid secondary infection and a dermatologist is highly suggested for the first year of life. All stages of the skin may overlap one another for the first year of life, each case is different in severity and longevity.

Secondary to IP Heat Intolerance has been found in some cases if this is a concern for you or your child please discuss this with your dermatologist.

NAILS – Dermatologist/Podiatrist

TEETH
Dental Specialists (needed as appropriate for age and affects)
Pediatric Dentist
Dentist
Orthodontist
Oral Surgeon
Periodontist
Cranio Facial (cleft palate)

Dental is a medical condition not cosmetic - Dental affects are recognized and understood as an Ectodermal Dysplasia (ED) from IP. All required dental work needed because of IP/ED is for medical purposes not cosmetic.
  
Dental work is Medical Not Cosmetic for insurance purposes

Verified helpful links
http://www.ectodermaldysplasia.org/
http://nfed.org/index.php/treatment/dental_treatment_centers_program

GENETICIST
A geneticist is suggested to remain as your families IP team leader for care throughout life including follow ups at the following milestones in life - All IP Births, Puberty & Pre-Natal. The attached article is from Gene Review - This is readily available for all geneticists worldwide and it is the main tool that they use -
http://www.ncbi.nlm.nih.gov/books/NBK1472/

additional verified medical link - 
http://www.omim.org/entry/308300

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TESTING
Molecular testing is Highly suggested for all families and individuals affected by IP for future family planning please visit our links page on our web site to see where testing labs are located around the world. A geneticist is the specialist to assist you with this.
http://www.ncbi.nlm.nih.gov/gtr/tests/?term=Incontinentia+Pigmenti

MOM MUST have molecular testing completed and IP found for the two below pregnancy options to be available. Timing for this is imperative and we highly suggest all molecular testing be completed prior to any pregnancy.

PREIMPLANTATION GENETIC DIAGNOSIS In Vitro Fertilization
http://ipif.org/pgd.html

CHORIONIC VILLUS SAMPLING (CVS)
http://ipif.org/cvs.html

IP BOYS
Woman with common deletion IP can not have a male affected with IP. Common Deletion Type IP known only by molecular testing is Male Fatal. All males who have IP and have survived are because of non-common deletion IP being directly passed on by a non-common deletion IP mother or a new case of non-common deletion IP altogether.
"Affected males. To date, all males with IP have had somatic mosaicism for the IKBKG mutation. Because the mosaicism does not include the germline, IP transmission from an affected male to his daughter(s) does not occur." (Angela Scheuerle, MD, FAAP, FACMG and Matilde Valeria Ursini, PhD.)

http://www.ncbi.nlm.nih.gov/books/NBK1472/#i-p.Molecular_Genetics 

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IP BIOBANK - IPGB BioBank - Incontinentia Pigmenti Genetic BioBank
https://www.facebook.com/events/1556927227890119/

Volunteer Blood Samples Requested
No Cost to Families
Life time storage of samples for worldwide IP research
Email – ipif@ipif.org for instructions and all documents required

IP ARTICLES - 
http://ipif.org/bibliography.html

IP Physical Findings - 
http://ipif.org/physicalfindings.html

IPIF - Incontinentia Pigmenti International Foundation
http://ipif.org

Disclaimer: The Incontinentia Pigmenti International Foundation” (IPIF) does not engage in the practice of medicine. It is not a medical authority nor does it claim to have medical knowledge. This site is an educational service of the “The Incontinentia Pigmenti International Foundation” and is not meant to provide diagnostic or treatment advice. Information contained or suggested on this Web site does not constitute medical advice. For all information related to care, medication or treatment, the IPIF recommends consulting a physician to determine if information presented is applicable. Please review these additional cautions about medical information provided.


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