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  Laura M Richter
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  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

The below IP Protocols for all ages of individuals are highly suggested. Included below are many useful links for patients, families and care teams.

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

It is highly recommended that an initial specialty team be put in place consisting of a Pediatric Ophthalmologist and/or Retinal Disease Specialist, Neurologist, Pulmonologist, Dermatologist, Geneticist and Dentist. Additional specialists may be required due to the multi system involvement of IP (including but not limited to Gastroenterologist, Auto Immune Disorder Health Care Team, Podiatrist, Orthopedist, Dental Care Team, and Various Therapeutically Specialties).

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

International IP Center of Excellence
http://hopital-necker.aphp.fr/
National IP Center of Excellence (Coming Soon)
https://www.nemours.org/

IP CONSORTIUM & LOCATIONS
http://www.ipif.org/ip_consortium.html
IP CONSORTIUM PUBLICATION
http://www.ncbi.nlm.nih.gov/pubmed/10839543

Disclaimer: IP Protocols were created using various reliable medical resources and professionals in their respected medical fields of specialty in collaboration with IPIF - Incontinentia Pigmenti International Foundation, I.P.ASS.I Onlus – Incontinentia Pigmenti Italian Association, IP Maladie Rare, Incontinentia Pigmenti France, IPGB BioBank – Incontinentia Pigmenti Genetic BioBank and IPF – Incontinentia Pigmenti Families and advocates.
IP Protocols Created – 2015; Revision 2017/03

EYES – Ophthalmologist, Pediatric Ophthalmologist and/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 and/or SUSPECTED to have 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. An angiogram is used to see the vessels located furthest within the eye where bleeding can occur and of which CAN NOT be seen by the naked eye. Frequency of repeat angiograms is based on the retinal specialist's interpretation of the retinal findings obtained with routine examination techniques.

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.

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.

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 eyesight.

BRAIN - Neurologist
A baseline MRI and MRA with and without contrast are highly suggested as soon as possible.
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

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.

PULMINARY – Pulmonologist
Pulmonary Hypertension can be an affect from IP. Non-evasive baseline testing is highly suggested at birth and to be monitored closely for the first year of life. The suggested timeline is birth, 3 months, 6 months, 9 months and one year.

GENETICIST –

A geneticist is suggested to remain as your families IP team leader for care throughout life including follow-ups at the following milestones - All IP Births, Puberty & Pre-Natal.

*NOTE – (common incontinentia pigmenti mutation in IKBKG (80%) versus the minority (20%-30% with as- yet undefined mutations in this gene) – (Common deletion IP, Male Fatal vs Non common deletion IP, some male survival, some male fatal, some unknown.) – Molecular Testing with or with out skin biopsy is required for specific diagnosis of IP, see IP Biobank for FREE molecular testing and/or visit http://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=Incontinentia+Pigmenti.

"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/spontaneous 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.)

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. (if mom has IP eye affects see EYE Protocol above for suggested delivery)

PREIMPLANTATION GENETIC DIAGNOSIS (In Vitro Fertilization – IVF) – (PGD&PGS)
http://ipif.org/pgd.html

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

IP PHYSICAL FINDINGS -
http://ipif.org/physicalfindings.html

SKIN - HAIR - Dermatologist

We suggest keeping 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 and stages may repeat themselves. Each case is different in severity and longevity. There is no "cure" for the skin stages they will run their course for each case and with illness may become more severe.

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

NAILS – Dermatologist/Podiatrist

Ridging and pitting of the nails is common, Nail Dystrophy and Subungal Tumors may also occur.

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

Dental affects are recognized and understood as 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
USA - https://www.nfed.org/
UK - http://www.ectodermaldysplasia.org/

IP Reliable Public PUBLICATIONS –
http://www.igb.cnr.it/ipgb/publications
https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-9-93
https://www.ncbi.nlm.nih.gov/books/NBK1472/
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0087771

LINKS –
http://www.ncbi.nlm.nih.gov/books/NBK1472/
http://www.omim.org/entry/308300

_________________________________

IP BIOBANK - IPGB BioBank - Incontinentia Pigmenti Genetic BioBank
http://www.igb.cnr.it/ipgb
Volunteer Blood Samples Requested
No Cost to Families
Lifetime storage of samples for worldwide IP research
All initial molecular findings will be reported back to the families' sending/requesting doctor
Email – ipif@ipif.org for instructions and all documents required
-OR
See
application form at http://www.igb.cnr.it/ipgb/publicforms/application-form

IPIF - Incontinentia Pigmenti International Foundation
www.ipif.org

I.P.ASS.I Onlus - Incontinentia Pigmenti Italian Association
www.incontinentiapigmenti.it

IP Maladie Rare, Incontinentia Pigmenti France
http://incontinentia-pigmenti.fr/en

Disclaimer: IP Protocols were created using various reliable medical resources and professionals in their respected medical fields of specialty in collaboration with IPIF - Incontinentia Pigmenti International Foundation, I.P.ASS.I Onlus– Incontinentia Pigmenti Italian Association, IP Maladie Rare, Incontinentia Pigmenti France, IPGB BioBank– Incontinentia Pigmenti Genetic BioBank and IPF – Incontinentia Pigmenti Families and advocates.

IP Protocols Created – 2015; Revision 2017/03
Common Questions (IPF) and Answers (IPGB) – Inheritance / Spontaneous Mutation

Questions by – IPF - Incontinentia Pigmenti Families

Answers by – Incontinentia Pigmenti Genetic Biobank, IPGB
Matilde Valeria Ursini, Ph.D.
http://www.igb.cnr.it/ipgb
Institute of Genetics and Biophysics
"Adriano Buzzati-Traverso", IGB-CNR
Group Leader Human Molecular Genetic lab
Via P. Castellino, 111, 80131
Naples, Italy
Tel +39 081 6132262
FAX +39 081 6132706

~

IPF- Matilde Valeria Ursini can you please explain more about the de novo and occurring in the inheritance of the fathers NEMO gene?

IPGB- The 65% of IP patients had not inherited the mutation from the mother. They are so called "sporadic cases" in the sense that they are not familiar case.

~

IPF - It is possible to detect which parents X mutated?
IPGB – It is possible and much is from the father. If we refer to the common NEMO mutation, females with IP
have two types of cells, one with the X normal functioning (which is good working) and another with the X notgood
(with mutation) working. So females are mosaic because inactivation of one of the two X chromosomes
causes this difference. Maless have the same X chromosome in all cells but in one cell after fertilization arises
a mutation in the X chromosome that causes IP occurs in all cells. The X chromosome is working but in one
cell it is a good X in the other cell it is the not-good X. Thus also males are mosaic. The difference is that the
male IP cases are VERY VERY rare because the occurrence of the mutation in the X chromosome after
fertilization is infrequent.

~

IPF

  1. Can you give Clarity on the de novo mutation occurring on the fathers X in reference to spontaneous "sporadic" mutations?
  2. Can you explain a difference in the spontaneous mutations occurring on a mothers X or fathers X. Is there a difference, does it cause different/more severe affects depending on which X the sporadic occurs?
  3. Does the spontaneous mutation only occur on a fathers X?

IPGB - The spontaneous mutation can occur either on the mothers or fathers X chromosome in germinal cells. There is not a difference in the effect of the mutation. This also means that the mother and the father are not affected by IP but the child is affected because they had exactly the X chromosome in which the mutation arises. This baby (girl) when adult can transmit the IP to their child. This is related to the common NEMO mutation and to all kinds of mutations that abolish the function of NEMO. They are simply called loss-of-function mutation.

More important I want to repeat that more then 65% of IP are due to spontaneous mutation. Thus the fact that the mother is not affected is very common.

(re-explanation in "layman" terms) the spontaneous mutation can occur on/with the X of the fathers or mothers however the father would have NO IP himself nor would the mother. The IP occurring would be a sporadic event. The father and mother would both test negative for IP in this event because neither would in fact have IP. Regardless of the spontaneous/sporadic occurrence of IP it would make no difference in effects whether this occurred on either parents X that they passed on originally being IP free. This would occur before fertilization (germlin). The exception is for males who survive which is very rare and this occurs after fertilization.

~

IPF - Added confirmation if dad has IP a non common type (as Common is male fatal) Dad can not pass IP on ?

IPGB –No he cannot, but the story is more complicated because of the mosaicism. We are trying to publish a paper on that and will explain more when we get the publication completed. This will be the second chapter.

IPF - Matilde Valeria Ursini Thank you. We understand that science is very complex and we know at times it is usually confronted with much specialism that must be addressed first and foremost before such creditable reports can be officially published. We look forward to the updated information when ready which we do hope will cross reference chapter one in a way that many will understand where, why and what this will all mean for the now and future for all of us.

Your work and dedication to all of us is beyond appreciated again Thank You and your team so much for all that you do there.

End ~

Matilde Valeria Ursini - Valeria is one of the lead scientists at the IP biobank in Italy who collaborates worldwide with others whom research IP. Valeria and those she works with are IP experts in their fields. Valeria and those associated with her are the future of IP and with our help we will make a difference with positive change for us all.

If you wish to assist in our future with IP and continued research please join the biobank by submitting the required clinical questioners and molecular samples. The only cost to anyone participating is shipping.
Molecular results of confirmation of IP common deletion, non common deletion or negative IP findings of sent applicable samples will be returned to your sending doctor. The life long storage of all samples received for research purposes is done free of charge and all information received and returned is done so with the highest confidentiality standards obtainable.

IP Biobank Website -

To request directions and the required documents for participation to be returned directly to the IP Biobank when completed

E-mail - IPGB at incontinentia.pigmenti@igb.cnr.it

Ref - IP biobank participation

January 2017 *as research continues there may be change along with more clarity. IP Protocols and The Questions and Answers will be updated accordingly.


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