RESEARCH
Join the PHACE Registry
Timeline - Ongoing
This registry is for people diagnosed with PHACE,  LUMBAR and other, hemangioma-related syndromes, and performs a genetic analysis. Please note: you do NOT have to provide DNA samples to join the registry. The researchers may ask, but you may decline. Every piece of information helps the research team learn more about PHACE.
Doctors tell us this one of the most important thing families can do to help support research and find the answers we're all seeking. Click here to learn more.

To read about the latest published research results, please click any of the following links below.

Note: research summaries are intended for patient/parent educational purposes. If you are interested in reading more about a topic/article, the link that follows will take you to the full abstract and reference. Unless an article is available as an open-access resource, you will need to contact your local library, hospital, or medical provider to obtain a copy of the full article due to copyright restrictions.

 

 
 
Are you an adult (18+) who has been diagnosed with PHACE Syndrome?

Timeline - Ongoing

If so, we need your help! Members of the pediatric dermatology group here at Children's Hospital of Wisconsin are interested in investigating the natural history of PHACE syndrome with respect to adult patients. We are designing a brief questionnaire for members of the PHACE syndrome Registry to fill out that will allow us to better understand late onset health problems in PHACE syndrome. Your help will be absolutely critical in furthering what we know about the disease! If you are interested in participating, please contact Katherine Mueller at (kamueller@mcw.edu) or 414-955-2846. 

Sequencing of 30 PHACE tissue samples

December 2018

Through the Kids First Data Resource Center, with your support, Dr. Siegel will be able to sequence 30 PHACE tissue samples. This will be very important in trying to understand what causes PHACE.

If you or your child has PHACE syndrome there are a few ways you can participate:

1) With your approval, Dr. Siegel can use tissue samples from prior surgeries for the genetic studies. We can still use the sample, even if it is several years old.

2) Another way to provide a tissue sample is through biopsy at Children’s Hospital of Wisconsin (CHW) directly with Dr. Siegel’s team. If you have care and treatment scheduled at CHW in the next two months, please consider the biopsy option. Dr. Metry at Texas Children’s Hospital and Dr. Frieden at UCSF can also do the skin biopsies.

3) We also still need blood or saliva samples from the child/person with PHACE, mother and father.

Our goal is to collect these samples by March 1st, 2019.

Dr. Siegel serves as Director of PHACE Syndrome International Clinical Registry & Genetic Repository and is a current member of the PHACE  Syndrome Community Executive and Medical Advisory Boards. She is working to find the cause of PHACE!

Click here to learn more about Dr. Siegel and her exciting work.

Frequently asked questions:   

- What is the PHACE registry?  Click here to read about the registry.​

- Do I have to be a registry member to give tissue?  Yes.

- How do I join the registry? Please contact Olivia Davies (odavies@mcw.edu), PHACE Fellow at CHW.

- Is there an online-sign up form? Yes, once you qualify and are part of the registry, you will receive the online form from Olivia.

- How does someone provide tissue samples? Families can contact our PHACE fellow, Olivia Davies (odavies@mcw.edu). She will work with them to arrange everything.

- Is there a timeline/last date of surgery for tissue? Any prior surgery is fine.

Gabriella Miller Kids First X01 Grant

July 2017

 

The PHACE Syndrome International Clinical Registry and Genetic repository has been awarded a Gabriella Miller Kids First X01 grant.

This will allow a type of research testing called whole genome sequencing (WGS). This is a very sophisticated test to look for small changes in the DNA that might cause PHACE and LUMBAR. The grant will fund testing for 100 family trios (child, mother and father). This award is very exciting because with rare conditions like PHACE we need to study large numbers of individuals to figure out the cause. All that is needed to participate is to join the registry by signing the online consents and giving a small blood sample. All families trios that donate blood samples will receive a $50 Target gift card.

Find out more on the Gabriella Miller Kids First Pediatric Research Program!

For any questions, please contact Katherine Mueller kamueller@mcw.edu or Nikki Stefanko nstefanko@mcw.edu at the PHACE registry.

 
PHACES Foundation of Canada Grant

July 2017

 

Thanks to the PHACES Foundation of Canada - There is an additional set of hands at CHW to help with the PHACE Registry. Nikki Stefanko is the PHACE Foundation of Canada Pediatric Dermatology Research Fellow at the Medical College of Wisconsin. She graduated from Miami University with degrees in marketing and music. Nikki has completed three years of medical school at the University of Cincinnati College of Medicine and will finish her fourth and final year upon completion of her research year.  After medical school, Nikki aspires to pursue a residency in dermatology followed by a fellowship in pediatric dermatology.

Nikki will be working with patients and families for the PHACE Syndrome International Clinical Registry and Genetic Repository. She will be able to assist families with questions about the enrollment process. The focus of her this year will be to investigate the long-term outcomes and natural history of PHACE syndrome, including understanding the health of adults with PHACE. She would like to gratefully acknowledge Shannon Audette and PHACE Foundation of Canada for giving her the opportunity to help advance PHACE Syndrome research. 

Learn more about Nikki Stefanko.

Seeking Photos to Help Improve Diagnostics

January 2017

 

Seeking all parents with pictures! For this study, researchers at Indiana University, University of California, San Francisco, the Medical College of Wisconsin, and the Mayo Clinic are requesting that parents of children with hemangiomas and a diagnosis of PHACE syndrome fill out a questionnaire and send us a series of photographs of their child which demonstrates the early stages of the hemangioma. Ideally the photographs would show your child, including the area of the hemangioma, at or around birth, 1 week, 2 weeks, 3 weeks, 4 weeks, 8 weeks, and 12 weeks of age.

 

We believe that these photographs contain a great deal of useful information which can tell us much more than we currently know about the early signs of hemangiomas associated with PHACE Syndrome. We will be using these photographs to analyze early clues for hemangiomas at risk for PHACE Syndrome, and to hopefully help educate clinicians that will see infants very early in life so they can more accurately diagnosis and triage these infants.

For more information, please email Dr. Sarah Skillman. You can also download more information by clicking here

 
 
 
 
 
 

Note: research summaries are intended for patient/parent educational purposes. If you are interested in reading more about a topic/article, the link that follows will take you to the full abstract and reference. Unless an article is available as an open-access resource, you will need to contact your local library, hospital, or medical provider to obtain a copy of the full article due to copyright restrictions.

PHACE Syndrome — Before and After Propranolol Therapy
February 2018
Authors: Disse, S. C., Zemlin, M., Mueller, C., & Meyer, S. 
Outlet: The Journal of pediatrics, 193, 275.

 

This case report describes a little girl with PHACE syndrome, before and after treatment with propranolol.  Like so many other children with PHACE, she was first misdiagnosed with another condition (i.e., port wine stain) but then later found to have PHACE syndrome.  Her hemangioma grew very rapidly at first, so propranolol treatment was started.  In this case she was treated for 3 years with propranolol with excellent results and no complications. The pictures in this report show the progression and outcomes of her treatment.

Click here for a link to the study. 

 

Moyamoya vasculopathy in PHACE syndrome: six new cases and review of the literature

December 2017

Authors: Tortora, D., Severino, M., Accogli, A., Martinetti, C., Vercellino, N., Capra, V., Rossi, A. & Pavanello, M.  

Outlet: World Neurosurgery, 108, 291-302.

 

The most common problem in PHACE syndrome, aside from large facial hemangiomas, are differences in the arteries of the brain.  As children with PHACE grow up, these artery problems can worsen and may lead to headaches, seizures, and even stroke.  Therefore, it is important to study the arteries carefully and find which children are at highest risk for serious problems.  Those whose arteries are the most severely affected need to be studied with imaging more often, to decide on management including possible surgery to correct these problems. The abnormal blood vessels in the brain in PHACE can lead to something called “Moyamoya vasculopathy”. The word “Moyamoya” in Japanese means “puff of smoke”.  It refers to the appearance of many small arteries coming off of larger arteries and can be detected with MRI scans. Though these tiny blood vessels are believed to be the body’s attempt to increase blood flow to the affected areas, they can increase the risk for a stroke. This study presents detailed information about six new cases of children with PHACE and moyamoya disease, and reviews another 15 cases that had been published before.  The authors report that there are surgical treatments that can be done for these complicated problems with good results. 

 

Click here for the study.

 

  

 

Prenatal Risk Factors for PHACE Syndrome: A Study Using the PHACE Syndrome International Clinical Registry and Genetic Repository

November 2017

Authors: Wan, J., Steiner, J., Baselga, E., Blei, F., Cordisco, M., Garzon, M. C., & Metry, D. Outlet: The Journal of Pediatrics, 190, 275-279.

 

The cause of PHACE syndrome is unknown. Many past studies have reported in detail about possible pregnancy-related factors that could be related to PHACE syndrome. In this study, mothers of children with PHACE completed detailed questionnaires about their pregnancies. The results revealed that rates of certain kinds of placental problems were greater among kids with hemangiomas and PHACE than in the general population. Overall there was no single prenatal risk factor that was found to be a cause of PHACE, and no clear genetic cause has yet been identified. There are no clear differences the features of PHACE found in boys vs girls with PHACE, even though PHACE is more common in girls.  Most of the kids are white (Caucasian), but we know that PHACE can occur in all races. Future research will continue to examine how genetics and prenatal factors might work together to cause PHACE.

 

Click here for the study.

 

Structural malformations of the brain, eye, and pituitary gland in PHACE Syndrome

November 2017

Authors: Steiner, J. E., McCoy, G. N., Hess, C. P., Dobyns, W. B., Metry, D. W., Drolet, B. A., Maheshwari, M, & Siegel, D. H.  

Outlet: American Journal of Medical Genetics Part A, 176(1), 48-55.

 

PHACE is a syndrome including facial hemangiomas and an assortment of birth defects affecting the arteries, heart, brain, and eyes. About half of all PHACE kids have some problems of the brain itself, which in some cases can interfere with development of skills like walking, talking, reading, etc. This study was a look back at children already diagnosed with PHACE to better understand abnormal Magnetic Resonance Imaging (MRI) findings. The study looked at 55 patients with PHACE who had good quality MRI scans among 224 PHACE patients enrolled in the PHACE syndrome International Clinical Registry.  The authors evaluated these brain MRI scans carefully.  Of the 55 scans reviewed, nearly two-thirds did show at least one brain abnormality. The most common was under-development of a part of the back of the brain in an area called the cerebellum, which helps control balance and motor development.  The study also found some problems with the pituitary gland – also known as the “master gland”- which helps control production of cortisone, growth hormone, and other hormones.   Other problems found included abnormalities of the eyes or the nerves to the eyes.  This study confirms a lot of what was already known about the brain abnormalities in PHACE but it gives us a clearer picture of the specific problems and also the importance of eye and pituitary structure problems in some individuals with PHACE. 

 

Click here for the study.

 

 

Neurodevelopmental Outcomes in Children with PHACE Syndrome

June 2016

Authors: Brosig, C. L., Siegel, D. H., Haggstrom, A. N., Frieden, I. J., & Drolet, B. A.

Outlet: Pediatric Dermatology, 33(4), 415-423.

 

Children with PHACE syndrome have facial hemangiomas, and may have problems with their heart, blood vessels, and eyes.  90% of children with PHACE also have some type of brain abnormality detected on MRI.  These could cause slower development of skills like speaking, paying attention, reading, and walking. Also, children with PHACE may have behavior and emotional problems.  This study was performed to find out how many children with PHACE have developmental delays and behavior difficulties. 25 children with PHACE syndrome completed a day of testing. Tests of intelligence, memory, language, strength, and coordination were completed.  Parents were asked their about children’s emotions and behavior. The results of these tests and interviews were compared to the performance of children without PHACE. Most children with PHACE were no different from other children without PHACE. However, some children with PHACE had developmental delays or learning problems.  All specialists who care for children with PHACE need to be aware of the possibility of learning problems and psychological issues that can be part of this condition.

 

Click here for the study.

 

 

Infantile Hemangiomas and Structural Anomalies: PHACE and LUMBAR Syndrome

September 2016

Authors: Luu, M., & Frieden, I. J.  

Outlet: Seminars in Cutaneous Medicine and Surgery (Vol. 35, No. 3, pp. 117-123).

 

Doctors Liu and Frieden describe in detail two well studied syndromes where infantile hematomas have internal conditions as well.  The first syndrome PHACE has hemangiomas involving the face and scalp together with abnormalities involving brain, heart and other blood vessel problems.   In the other condition, LUMBAR syndrome, hemangiomas of the lower half of the body, especially the diaper area can have problems with the spinal cord, kidneys and genital structures. This article tells how to recognize simple benign hemangiomas that may require only good care for the skin problem itself, from the larger “segmental” hemangiomas that require further evaluations to look for other problems.  It explains what studies are needed for these syndromes, and some of the likely specialists that will be needed to manage problems that might be present.  It also reviews the main treatments for these hemangiomas.

 

Click here for the study.

 

 

 

Aortic arch repair in children with PHACE Syndrome

September 2016

Authors: Caragher, S. P., Scott, J. P., Siegel, D. H., Mitchell, M. E., Frommelt, P. C., & Drolet, B. A.  

Outlet: The Journal of Thoracic and Cardiovascular Surgery., 152(3), 709-717.

 

This study looks back at seven children with PHACE Syndrome who required surgery to repair aortic arch anomalies.  The aorta is the body’s largest artery and other major arteries including those to the neck, brain, and arms branch off of the aorta.   In PHACE syndrome, these arteries, as well as the aorta, can be affected. When the aorta and the large vessels branching from it are narrowed or oddly shaped, it can lead to poor circulation or weakness of the blood vessels, which can be very serious, even life-threatening.  The 7 children reported underwent different complicated surgeries, which are described in detail in this paper.  Some children needed repeat operations as they grew older.  This paper adds to the knowledge of what kind of aorta and heart problems are found in PHACE and some of the successful treatments surgeons can use to repair them.

 

Click here for the study.

New Care Guidelines for Patients with PHACE

November 2016

 

PHACE Syndrome Community's Medical Advisory Board heard members of our community loud and clear. Parents can feel overwhelmed by a child's diagnosis of PHACE Syndrome, particularly because so many doctors have never heard of it before. This 12-page paper, published by the prestigious  The Journal of Pediatrics, compiles all the latest research on best protocols for treatments of individuals with PHACE Syndrome. Click here or the title above to download the report.

Results of the first pediatric study evaluating efficacy of propranolol

Feb. 20, 2015

 

Pierre Fabre announced today that the results from the landmark clinical trial evaluating the first ever pediatric propranolol treatment for use in certain types of infantile hemangiomas resulted in significantly higher complete or nearly complete resolution of the target hemangioma. This data has just been published in the New England Journal of Medicine and specifically shows that the dose regimen of 3mg of propranolol base (3.4mg propranolol hydrochloride) per kilogram per day for 6 months has a significantly higher successful treatment rate than placebo (60.4% vs 3.6%; p<0.0001).
 
Click here for the complete press release.
Therapy of ulcerated hemangiomas

July-August 2013

Outlet: Journal of Cutaneous Medicine and Surgery

 

BACKGROUND: Cutaneous ulceration is the most common complication of infantile hemangiomas (IHs) seen in a pediatric dermatology practice. OBJECTIVE: The most effective treatments in our experience are compared to those in the current literature. METHODS: The study was a retrospective chart review of therapy of 169 ulcerated IHs at a tertiary care pediatric hospital and a literature review. RESULTS: Combination therapy was the rule. Local wound care was required in all, pain management in 72%, pulsed dye laser in 42%, infection control in 38%, diminution of the hemangioma through systemic therapy in 36%, and suppression of bleeding in 2%.LIMITATIONS: A retrospective review compared to a case-control study has inherent bias. In addition, our cases were all at a tertiary referral center.

 

CONCLUSION: All ulcerated IHs benefit from local barrier creams or dressings. Pulsed dye laser, antibiotics, topical morphine 0.1% in hydrogel, topical becaplermin, and, most importantly, systemic therapy (especially propranolol) to reduce the hemangioma may be useful.

Click here for the study.

 

 
 
 
 
 
 
 
 

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