Research Studies

Low-Dose Aspirin Study for people with SWS

Hunter Nelson Sturge-Weber Center
Kennedy Krieger Institute and Johns Hopkins Hospital
Principal Investigator: Anne Comi, MD
Protocol NA_00006945

People with SWS who have and have not taken low-dose aspirin are invited to participate in a research survey. This research study is being done by Dr. Comi and other faculty at the Hunter Nelson Sturge-Weber Syndrome Center. The survey is web-based, and no names or other identifying information, including your URL, will be collected. Your participation implies consent. With your help, we hope to improve treatment for people with Sturge-Weber Syndrome. It takes approximately 15-20 minutes to complete the study. There are minimal risks and no medical benefits for participating.

To fill out this survey, please visit the following web site: http://derm.med.jhmi.edu/sturgeweber/

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Has your child been diagnosed with “hemangiomas”, low levels of platelets, and gastrointestinal bleeding?

Your child could have a recently discovered disorder entitled multifocal lymphangioendotheliomatosis with thrombocytopenia (see articles). This disease has also been titled cutaneovisceral angiomatosis with thrombocytopenia in the medical literature. Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is a rare vascular disorder characterized by multiple red- brown skin lesions, often misdiagnosed as hemangiomas. Children with this disease have similar lesions in the stomach and intestines which tend to bleed, especially during the first year of life leading to very low blood counts. The children suffer from profound thrombocytopenia (low platelet counts, below 30,000-50,000). Although a relatively newly described entity, MLT was and continues to be misdiagnosed as blue rubber bleb nevus syndrome, diffuse hemangiomatosis, Kasabach-Merritt phenomenon, and hereditary hemorrhagic telangiectasia.

The Birthmark and Vascular Anomalies Center at Children’s Hospital of Wisconsin has created an interdisciplinary task force to study infants with vascular disorders and low platelets. The task force is a collective group of clinicians and researchers from diverse pediatric specialties including; dermatology, neonatology, otolaryngology, gastroenterology, hematology/oncology, genetics and pathology. We have designed a registry to collect information on all patients with MLT. The registry will address many unanswered questions regarding risk factors and treatment options for this rare disease. Dr. Paula North, who originally described this disease, will review all biopsy specimens. This data will be used to better understand the disease, design diagnostic criteria, and create treatment guidelines. Ultimately the project will aim to obtain national funding to study the cause of MLT and generate safe and effective therapeutic interventions.

If you think your child has multifocal lymphangioendotheliomatosis with thrombocytopenia/cutaneovisceral angiomatosis with thrombocytopenia please contact us so we can learn more about this disease. This study is approved by our Internal Review Board and we will send you a consent form.

Contact Information:
Linda Go, MD
Research Fellow, Pediatric Dermatology
Medical College of Wisconsin
Adress:9200 West Wisconsin Avenue
Froedert Hospital East
Department of Dermatology
Milwaukee, WI 53226
Phone: 414-266-6431 Fax: 414-266-3315
E-mail: lgo@mcw.edu

Beth A Drolet, M.D.
Professor of Dermatology and Pediatrics
Medical College of Wisconsin, Milwaukee Wisconsin
Medical Director of Dermatology and Birthmarks and Vascular Anomalies Children’s’ Hospital of Wisconsin
Address: 9200 West Wisconsin Avenue
Froedert Hospital East
Department of Dermatology
E-mail: drolet@mcw.edu
Phone: 414-805-5304

Multifocal Lymphangioendotheliomatosis With Thrombocytopenia
A Newly Recognized Clinicopathological Entity
Article Located at Archives of Dermatology

Multifocal Lymphangioendotheliomatosis With Thrombocytopenia:
A Rare Cause of Gastrointestinal Bleeding in the Newborn Period
Article Located at Pediatrics

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PHACES Study

Doppler imaging study of children with PHACES syndrome (OMIM #606519) at the Morgan Stanley Children’s Hospital of New York, Columbia University Medical Center.

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PWS Study

Dr. J. Stuart Nelson and colleagues at the Beckman Laser Institute and Medical Clinic (BLIMC) are looking for port wine stain (PWS) patients who wish to have treatment using new technology.

Very often, the treatment of light pink and red PWS lesions commonly seen in infants and young children can be extremely frustrating for both the patient’s family and the physician. The reason for poor response by such lesions to laser treatment is that the blood vessels are very, very small, often less than 30 micrometers in diameter. As a result, there is not enough blood available in these very small vessels to absorb the incoming laser light. Little absorption of the laser light does not induce adequate heat generation to sufficiently destroy the vessel. One approach to overcome this limitation is to use a wavelength of laser light that are maximally absorbed by blood. Use of the 577 nm wavelength would result in a two-fold increase in the amount laser light absorbed as compared to the currently used 585 and 595 pulsed dye lasers. Candela Laser Corporation has constructed a PDL operating at a wavelength of 577nm. Our specific aim is to determine whether the use of 577 nm laser light will improve PWS lesion blanching.

If you or a family member of a patient affected by a PWS wish to have treatment using the laser technology described above, please contact the Vascular Birthmark and Malformations Diagnostic and Treatment Center Clinical Coordinator at the BLIMC, Andrea Giancarli, by telephone (949-824-4269) or e-mail (afgianca@uci.edu).

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Linda Rozell-Shannon is doing a research study for her PhD and needs to know if there are any moms of babies with hemangiomas who had a placenta problem and also had pathology done on their placenta so that the pathology may be available for our medical research team to review. If anyone meets this criteria: 1) had a baby with a hemangioma; and 2) had a placenta issue; and 3) has the pathology still available on their placenta (probably at the hospital where the baby was born), please contact Linda at hvbf@aol.com or use the contact form.


PS: If you were told you had a placenta problem your placenta was likely "examined" and that would mean it may still be available in a block of frozen tissue for further study. You may have to call your ob/gyn office to verify.

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Use of the Atkins diet for children with Sturge-Weber Syndrome

Principal Investigator: Eric Kossoff, MD

You are invited to join a study enrolling children ages 2-18, with proven Sturge-Weber syndrome on an MRI, for a study of the Hopkins modified Atkins diet for treating intractable seizures. Children must have at least one seizure every month and have tried at least 2 anticonvulsant medications to enroll. The study involves 3 visits to Johns Hopkins over 6 months, which must be covered by the parent or insurance. Blood and urine studies will be obtained at the first and last visits.

For more information, contact Dr. Eric Kossoff at 410-614-6054 or ekossoff@jhmi.edu

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PHACES Syndrome Families
A study is being done at UCSF on the genetic cause of PHACES syndrome. Please contact Dr. Dawn Siegel directly to discuss your participation in the study. (As of June 1, 2007 this study is on hold because Dr. Siegel is relocating.The study will be moving to OHSU in Portland, Oregon and should be reactivated by September 1, 2007.)

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PHACE Syndrome Registry. Parents of children with PHACE Syndrome registry

New paper on PHACE Syndrome (pdf)

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The Effect of Facial Hemangiomas on Psycho-Social Development

Elissa Uretsky- Rifkin, M.Ed. CMHC is conducting this survey for Hemangioma ONLY.
This study has been approved by the Human Studies Committee at The Washington University Medical Center in St. Louis, MO. If you are 14 years old or over and would be willing to answer three short questionnaires, please volunteer for this research study. This study is investigating the psycho-social impact of growing up with an hemangioma on the face.

You must meet the following criteria to be in the study:

Your birthmark must have been diagnosed as an hemangioma (either deep, superficial or mixed), NOT a Port-Wine Stain or other type of malformation.
You did not receive any treatment prior to age 14 to remove, lighten or reduce the Hemangioma.
It must have covered at least 10% of the face (size of an egg) and been visible to other people.
You must have attended a public or private school. (not home schooled)
You must be able to fill out the questionnaire without help from another person.
All participants must sign a consent form, and if you are under 18 years of age a parent or legal guardian must sign and approve your participation in the study.
All information is strictly confidential. Your answers will be sent to the scoring coordinator anonamously (without your identity disclosed).

Elissa Uretsky- Rifkin, M.Ed. CMHC
Clinical Mental Health Specialist
Principal Investigator
studyvb@aol.com