Ask the Expert highlights topics of importance to the PHACE Syndrome Community.
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Laser Treatment for the Hemangioma in PHACE Syndrome
By: Denise Metry, MD
While medical therapy with oral propranolol is commonly the first-line treatment for hemangioma in PHACE syndrome during infancy, laser therapy is often considered later to improve residual telangiectasias (broken blood vessels remaining after the hemangioma has involuted), noticeable blue veins, skin discoloration, and/or scarring. Pulsed-dye laser (PDL) is the most widely used laser for children with hemangiomas. PDL is a non-invasive treatment that uses a concentrated beam of light to target blood vessels in the hemangioma, causing them to shrink. It is particularly effective for thin, red areas of hemangioma and for telangiectasias. In addition to PDL, other alternative lasers can also be used to improve veins, scarring, and discoloration. Timing and Frequency The use of PDL therapy in young infants with PHACE syndrome has historically been controversial because segmental facial hemangiomas are at significantly higher risk for ulceration, and the trauma from the laser could promote ulceration. However, once the growth of the hemangioma has stabilized naturally and/or with the use of propranolol, PDL can be safely performed, especially by an experienced laser surgeon. PDL can also be considered later (generally at pre-school age) once the hemangioma has involuted. Alternative lasers have a higher risk of complications and are generally not used in infants but reserved for later in childhood. The frequency of PDL treatments and the number of sessions required vary depending on the size, location, and response of the hemangioma to the laser. However, PDL is generally repeated every 2 to 12 weeks, with 3 to 5 sessions most often required. Alternative lasers are generally repeated every 3 months due to the longer healing times needed. Risks and Considerations Ulceration and Scarring: While PDL is generally safe, there is a risk of ulceration, scarring, or changes in skin texture, particularly in infants under 6 months of age with PHACE syndrome. Alternative lasers have a higher risk of such complications at any age and should only be used by an experienced laser surgeon. Pain and Discomfort: Children commonly experience pain or discomfort during laser treatment. Discomfort may also occur after the procedure but is less common following PDL. Various anesthesia options are available. Eye Damage: Lasers may damage the eyes; thus, eye protection is mandatory during treatments. This can be achieved with eye shields placed over the eyes or goggles, or eye shields inserted over the eye itself after using topical anesthetic drops. Skin Discoloration: While usually temporary, sun protection is mandatory before and after laser procedures to minimize discoloration and maximize healing. Anesthesia Options While laser treatments are often quick and can be completed in minutes, several anesthesia options are available to improve a child's comfort: - Holding/swaddling - Oral sweeteners (sucrose) on a pacifier - Numbing (anesthetic) cream applied to the skin - Sedation with oral medication or a mask (nitrous oxide) - General anesthesia (child completely asleep) Alternative lasers to PDL are more uncomfortable and often require sedation or general anesthesia. At some pediatric laser centers, "child life" specialists, music, or other resources can be requested to help explain the procedure to a child in an age-appropriate way and provide comfort during the laser surgery. While the child's age and the size and location of the hemangioma are the most important factors in selecting appropriate anesthesia, the choice of anesthesia requires shared decision-making between the caregiver and laser surgeon. Conclusion Laser treatment is a valuable option for improving residual skin sequelae from hemangioma, such as redness, discoloration, or scarring, in children with PHACE syndrome. Laser therapy can help improve a child's appearance, positively impacting self-confidence and self-esteem. By understanding the timing, frequency, risks, and anesthesia options, caregivers can make informed decisions about their child's care. It is essential to work closely with a laser surgeon experienced with children and hemangiomas to ensure the best outcomes for the child. Dr. Metry is an academic pediatric dermatologist who has practiced in Houston, Texas for more than 20 years. She developed a passion for vascular birthmarks, especially infantile hemangiomas, early in her training. She is a founding member of the Hemangioma Investigator Group with whom she has engaged in collaborative research resulting in >100 publications. Some of her career highlights include organizing the first PHACE Syndrome research and family meeting in 2008, which resulted in diagnostic criteria for the syndrome and began the PHACE Syndrome Community. She also recently led an expert consensus to establish diagnostic criteria for LUMBAR syndrome.
When is Repeat Neuroimaging Necessary in Children with PHACE Syndrome?
By: Christopher P. Hess, MD, PhD
Most parents understand why CT or MRI was essential in the initial evaluation of their child with segmental hemangiomas. The very diagnosis of PHACE relies upon the discovery of certain characteristic brain or vessel anomalies that are not externally visible to even the most knowledgeable doctors. Depending on the extent and severity of any underlying anatomic abnormalities, the first imaging evaluation also defines the best short-term treatment planning for their child, whether it is a conservative “watch-and-wait” approach, the prescription of a medical treatment like propranolol or, in some cases, surgical correction of life-threatening disease. Why and when neuroimaging becomes necessary again at a later point in time is more poorly understood and controversial. After many years of using imaging to study children with PHACE, we now know that brain structural differences are fixed and do not change significantly over time. On the other hand, some types of arterial abnormalities that are discovered in the large arteries inside of the head, neck and/or chest do change over time. Minor fluctuations in the caliber and blood flow through arteries typically mean very little. But major narrowing of arteries that significantly impede the flow of blood from the heart to the brain or other parts of the body carries an increased risk of serious outcomes, including stroke. More work is necessary to define which arteries are most likely to change in caliber over time in a child diagnosed with PHACE. It is accepted now that arteries that are normal on initial imaging, including normal anatomic arterial variants which occur with higher frequency in children with PHACE, do not change over time. In contrast, arteries found to be severely narrowed on initial imaging studies appear to be at the highest risk of growing even more narrowed over time. It is thus recommended that children who have severe narrowing of the carotid or the intracranial arteries undergo repeat imaging at 6-12 months after the initial imaging exam, even if it requires general anesthesia. For children diagnosed with dysplastic or tortuous arteries without narrowing, or minor narrowing unlikely to impede blood flow, imaging can be deferred to a later point in time (ideally into early adolescence, when MRI can be done without anesthesia). In order to avoid unnecessary exposure to radiation, MRI of the brain, along with MR angiography of the brain and neck, is recommended instead of CT for imaging in children. It is important to emphasize that in all children diagnosed with PHACE, repeat imaging may also be indicated if your child ever develops any new worrisome clinical symptoms (such as seizures or weakness). Christopher P. Hess, MD, Ph.D. is Professor and Chairman of the Department of Radiology and Biomedical Imaging at the University of California, San Francisco. As a clinical neuroradiologist, he has studied images from around the world in children with PHACE to understand the origins of arterial disease and define their implications for treatment and for childhood development. A fellow of the American Institute for Medical and Biological Engineering, he has published more than 150 papers and lectures nationally and internationally on neurovascular disease. Dr. Hess is a member of the American Society of Neuroradiology, the Radiological Society of North America, and the International Society for the Study of Vascular Anomalies. He is also a member of the PHACE Syndrome Community Medical Advisory Board.
Migraines
By: Christine Fox, MD, MAS
What are the first signs my child might be experiencing PHACE-related migraine headaches? Are PHACE migraines typical migraines or a specific kind? Headache is a common problem among children with PHACE syndrome. Surveys of families suggest that many children with PHACE syndrome begin to complain of headaches at an early age and that some children have severe and debilitating headache episodes. Children with PHACE who have headache commonly complain of other symptoms associated with migraine, including photophobia (sensitivity to light), phonophobia (sensitivity to sound), nausea and vomiting. However, there are many different types of headaches and it is important to talk to your doctor to determine whether the headaches your child has could be migraine. What is a migraine? Migraine is a complex genetic disorder of the brain characterized by head pain and associated symptoms such as nausea and sensitivity to light or sound. Migraine can also be associated with dizziness, visual disturbances, fatigue, irritability and difficulty concentrating. During a migraine, neuropeptides (brain & nerve chemicals) are released, causing the head pain and associated symptoms. What are common headache/migraine triggers? Migraine attacks can be triggered by many things. Common headache and migraine triggers include poor sleep, dehydration, skipped meals, inconsistent exercise, irregular caffeine use and stress. For adolescent girls, there is often a hormonal trigger, with headaches worsening monthly during the menstrual cycle. Migraine sometimes occur in the absence of any identifiable trigger. Keeping a headache journal can help to understand your child’s headache patterns and triggers. How can magnesium supplementation help my child’s headaches? What type is best? What dose is appropriate? Magnesium supplements are one of many types of daily oral medications that are used for prevention of episodic migraines. Migraine prevention medications work best when they are used together with lifestyle modifications that include good sleep hygiene, routine meal schedules, drinking adequate amounts of water and avoidance of migraine triggers. All types of migraine prevention medications take time to work, and typically require two to three months of consistent treatment to see a reduction in headaches. If your child is experiencing headaches, it is important to get the right diagnosis to decide the best acute and preventative headache treatments. Talk to your doctor to help choose the medication and dosing that might be most helpful for your child. What can a parent do to help curb the frequency and/or duration/intensity of a migraine? What are the best “dos” and don’ts” tips for when your child experiences a migraine headache? The most important thing in curbing the frequency of migraine is regularity. This means regular sleep, regular meals, regular exercise, maintaining good hydration and stress regulation. When a migraine occurs, treating attacks early after the headache starts helps to decrease duration and intensity. However, it is important not to use medications like acetaminophen or ibuprofen more than a few days per week. Some pain medications actually worsen headaches in the long run by causing medication-overuse headaches. Your doctor can help you put together a plan for headache prevention and acute treatment when a headache occurs. For older children, explaining what a migraine is and teaching how to prevent headaches can be a powerful part of migraine management. Also, remember that having migraine during childhood or adolescence can have an effect on academic and social development. Frequent school absences may cause anxiety about falling behind on school work, and missing out on seeing friends often affects mood. Stress in turn makes coping with headache more difficult, worsening the cycle. Cognitive behavioural therapy, stress management techniques and relaxation strategies can be an important non-pharmacologic part of headache treatment. The American Migraine Foundation has resources to help you speak with your child, your child’s teachers and school about migraines and headache treatment. Christine Fox, MD, MAS is Associate Professor of Neurology and Pediatrics at the University of California San Francisco (UCSF). She is dual board-certified in Vascular Neurology and Child Neurology, with Master's Degree in clinical research. She directs the Pediatric Stroke and Cerebrovascular Disease Center at Benioff Children’s Hospital, San Francisco. In her clinical practices, she cares for children who have had a stroke or are at risk for stroke in the ICU, acute care, and outpatient settings; including children with arterial and cardiac anomalies that can occur with PHACE syndrome. Her research program is focused on childhood stroke and has been supported by the National Institutes of Health, the American Heart Association, and the Pediatric Epilepsy Research Foundation. She co-chairs the Pediatric Stroke Readiness Group for the International Pediatric Stroke Organization and serves on the Executive and Publications Committees of the International Pediatric Stroke Study consortium.
How to talk to your child about PHACE Syndrome
By: Ilona Frieden, MD
We face many challenges as parents. Parents of a child with PHACE need to be able to help their child to understand what PHACE is and how it affects them. I don’t think there is one “right way” to do this but there are a few tips that I’ve learned over the years that I hope will prove helpful to you. First and foremost, any discussion needs to be appropriate for your child’s age and stage of development. For those with visible hemangiomas, I advise parents to give their child specific words to use in case they are asked about visible skin differences. Beginning at about 3 years of age (or perhaps a little earlier for precociously verbal children), children should be taught that the visible skin changes are a “birthmark,” and as they get older, a “hemangioma”. Having a name to describe what they have is very helpful because if someone asks about their hemangioma, they can say “It’s a birthmark. I was born with it.” This gives them more control over the situation than if they don’t know what to say or have to look to you as their parents to provide answers. For most children, knowing that they have PHACE syndrome is not necessary until several years later because many of the other components of the syndrome are not visible. However, if there are specific aspects that are visible to others, again, very simple language to describe this can be helpful. For example, “You were born with some differences in your ears, so one ear doesn’t hear as well”. If children want to know why they have PHACE or these differences, it is important to be honest and say “we don’t know why you have this” or “the doctors haven’t figured out what causes PHACE but hopefully one day they will figure it out”. Another aspect of having conversations with your child about this topic is to emphasize that lots of people are born with things that make them a little different from someone else. It’s helpful if your family knows someone else with a congenital problem, disability, or medical issue, to consider using this as an example. Remember that the conversation about PHACE will evolve over time. It is important that to signal to your child that you are comfortable talking about PHACE and bringing it up every year, or more often if needed, to see if they have questions. In having this conversation, a good starting point is to find out what they know or think is going on. A good time for having a check-in conversation is before or immediately after a doctor’s visit for a PHACE-related problem. Don’t feel the need to explain too much. Many kids want to know to a point, but not in too much detail, because this can make them confused or anxious. Some very practical information about this topic is available at the following link: https://www.aboutkidshealth.ca/Article?contentid=1141&language=English Parents can have intense emotions such as grief, anger, or feeling overwhelmed, particularly in the early phases of a diagnosis of PHACE. It is important to find a safe place to talk about these feelings. For many parents, talking honestly with a primary care physician, specialist, or even getting professional help from a therapist about your own fears and concerns can be very valuable. During doctor’s visits, parents often share their concerns about the hemangioma, PHACE, or other medical issues, and their fears about the future for their children. It is important to remember that young children, who may not understand all the words, do pick up on a parent’s emotions and the fear. Once children are older than one year, it’s probably better to talk about highly emotional concerns without your child present. In front of them, try to show acceptance and resilience to the extent you can, so this helps them to have these same qualities. Especially when they are young, your opinion matters more than anyone else. If you model these behaviors, they will be better able to cope with challenges that face them. Finally, consider reaching out to others. Considering talking to trusted friends or family members. Talking to other parents in the PHACE syndrome community can also be very valuable. If you are able to, consider attending a PHACE family conference where you and your child can meet other people with similar issues and challenges. Dr. Ilona Frieden is a pediatric dermatologist and a world-renowned specialist in children's skin diseases at UCSF Benioff Children’s Hospital. Dr. Frieden cares for children with a variety of birthmarks and has a special interest in those that arise from abnormal blood vessels, including hemangiomas and vascular malformations. She directs the UCSF Birthmarks & Vascular Anomalies Center. She has authored and co-authored dozens of book chapters and more than 250 peer-reviewed articles, including many on PHACE syndrome. Dr. Freiden is a member of the American Academy of Dermatology, American Academy of Pediatrics, Society for Pediatric Dermatology, American Dermatological Association, Women's Dermatologic Association and International Society for the Study of Vascular Anomalies, and is a member of the PHACE syndrome community Medical Advisory Board.