For our families affected by incontinentia pigmenti, we wanted to share with you information about a study that is seeking participants. Here is the letter from lead investigators with all of the details.

Dear patients and families affected by incontinentia pigmenti,

Incontinentia pigmenti (IP) is a rare disorder that primarily affects the skin and brain, but a few cases of heart abnormalities have been reported as well. This includes congenital heart disease (CHD; an abnormality in the structure of the heart) and pulmonary hypertension (PH; an elevated pressure in the lung arteries). We are currently investigating the prevalence of CHD and PH in patients with IP by examining their echocardiograms (ultrasounds of the heart). Our study may help shed some light on the cardiovascular effects of IP, and may impact the care of all patients with IP.

Please contact us if you are interested in participating in our study. If you or your child has been diagnosed with IP and previously had an echocardiogram (performed at the age of 0 to 21 years old) for any reason, we will ask you to obtain a CD-ROM copy of that echocardiogram for our analysis (we will cover the mailing fee). If no previous echocardiogram is available, but you live in the New York metropolitan area, we may be able to offer a free echocardiogram at no cost to you.

If you are interested in participating in this study, please contact us at the following email address (with the subject “IP RESEARCH”) so that we may discuss the details with you:

Thank you very much for your interest in our study.


Denise A. Hayes, MD & Caitlin Heyden, DO
Department of Pediatric Cardiology
Steven and Alexandra Cohen Children’s Medical Center
269-01 76th Avenue Suite 139
New Hyde Park, NY 11040
Tel: (718) 470-7350

6 comments on “Incontinentia Pigmenti Researchers to Study Heart Problems”

  1. 1
    Frankie Barnard Johnston on May 3, 2018

    I am 71 year old female w/IP and have had high blood pressure problems since early 20s. Have to change meds often to keep it under control.

    1. 2
      Jodi Edgar Reinhardt on May 7, 2018

      We encourage you to learn more about the study by contacting them at the info above. It sounds you have information that would be helpful for it! Jodi, NFED Director, Marketing and Communications

    2. 3
      Melissa James on June 25, 2018

      I am 54 I have IP and high blood pressure

    3. 4
      Jodi Edgar Reinhardt on June 26, 2018

      Please email the contact in the article about participation in the study if you are interested. The investigator will not be checking this web page. Thanks and good luck!

  2. 5
    A. Frank on May 4, 2018

    My 12 yo daughter was birdied diagnosed with IP as an infant. Two years ago (and lasting for about a year) she had episodes of localized exquisite pain that would be accompanied by a mottled rash that looked like bruising. During this year she also had intermittent stomach pain,headaches, and to use the doctor’s adjectives ‘alarmingly high blood pressure.’ No doctor, at any point in her life was ever willing to attribute and issue to IP. Even during this time period, we were sent to a pediatric nephrologist because of the high bps, but by the time we navigated the referral and got an appointment she was seemingly well. There had been milder periods of similar symptoms off and on her entire life, and she has had recurrence of Milder symptoms since, most notably the rash. Thoughts would be appreciated.

    1. 6
      Jodi Edgar Reinhardt on May 7, 2018

      I’m sorry to hear about all of the issues your daughter experiences. I would encourage you to contact the researchers. Your experience is exactly what they are wanting to learn. They also may be able to give you some information to help you.

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