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.
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)
* 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
Dental Specialists (needed as appropriate for age and affects)
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
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 -
additional verified medical link -
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.
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
CHORIONIC VILLUS SAMPLING (CVS)
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.)
IP BIOBANK - IPGB BioBank - Incontinentia Pigmenti Genetic BioBank
Volunteer Blood Samples Requested
No Cost to Families
Life time storage of samples for worldwide IP research
Email – email@example.com for instructions and all documents required
IP ARTICLES -
IP Physical Findings -
IPIF - Incontinentia Pigmenti International Foundation
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.