Moms and dads, you may be worried and scared when you see large red spots or small bumps on your little one's body, sometimes on the face and neck. Sometimes these are just things that will heal, but rarely, they can be a sign of a rare and somewhat complex condition like PHACE Syndrome . So, without further ado, let's talk in detail about what PHACE Syndrome is, what it causes, and what we should do if it is something like that.
What is PHACE Syndrome?
Okay, first let's see what PHACE syndrome is. Simply put, it is a very rare condition. That means it doesn't happen to everyone. It is a congenital condition that is present at birth. That means it occurs while the baby is still in the womb. This condition can affect various parts of the baby's body. It mainly affects the skin, brain, heart, major arteries, and eyes .
Most of the time, there are only a few defects in each of these areas. Some children may only show a few of the symptoms listed below. The most common conditions seen in children with PHACE syndrome are hemangiomas , cerebrovascular defects, and heart defects . These may be noticed during pregnancy, at birth, or in infancy.
PHACE is actually an acronym for several different disorders. It describes the major developmental abnormalities associated with this syndrome. It is sometimes called PHACES syndrome. The extra 'S' stands for sternal clefting . This means that the bone in the middle of the chest, the sternum, is not properly formed, or there is some defect in it.
What are the symptoms of PHACE syndrome?
So, what are the symptoms of a child with PHACE syndrome? This can vary from child to child. Some children have fewer symptoms, some have more. And the severity of the symptoms also varies from one child to another. Let's see what the main symptoms are:
- Hemangiomas: These are visible, discolored lumps on the skin. They are actually formed by the growth of extra blood vessels . They are most often seen on the scalp, face, neck, body, and arms. They are usually quite large and can spread. However, sometimes these hemangiomas can also affect the internal organs of the child. If this happens, problems with vision and hearing may occur.
- Brain abnormalities: The posterior fossa, an area of the brain at the back of the child's brain, controls vital functions such as balance, coordination, and breathing. If there is an abnormality in this area, the child may have involuntary movements and intellectual disabilities . There may also be changes in the structure of the brain itself.
- Heart abnormalities: Some heart defects can cause symptoms such as shortness of breath , muscle weakness , high blood pressure , frequent anxiety, and sweating. Sometimes, a baby's heart is not fully developed, and there may be a hole between the chambers of the heart (ventricular septal defect) . Or, there may be a narrowing of the aorta (coarctation of the aorta).
- Arterial abnormalities: If the arteries that carry blood to the brain and neck are narrowed or have other abnormalities, the brain may not get enough blood. This can lead to dangerous conditions such as aneurysms , seizures , strokes , or loss of sensation on one side of the body.
- Eye abnormalities: The baby's eyes, optic nerves, or blood vessels in the eyes may not have developed properly. This can cause poor vision, loss of vision , abnormally small eyes, uncontrolled eye movements, or drooping eyes .
- Breastbone abnormalities: As mentioned earlier, the breastbone (sternum) in the middle of the baby's chest may be missing or may not develop properly. This can cause cracks, bumps, and pits to appear in that area.
Possible complications of PHACE syndrome
Children with PHACE syndrome are more likely to develop certain complications due to these abnormalities in their body structure and blood vessels. Here's what they are:
- Balance issues
- Dental problems, for example , enamel hypoplasia and tooth root abnormalities.
- Difficulty swallowing
- Endocrine system abnormalities. For example, decreased thyroid function and decreased hormone production.
- Frequent headaches, sometimes migraines .
- Poor growth
- Speech and language delays
- Increased risk of stroke .
- Underdeveloped reproductive organs
What causes PHACE syndrome?
Researchers still don't know exactly why some babies develop PHACE syndrome. Studies suggest that it may be caused by both genetic and environmental factors. However, the exact genetic variation that causes it is not yet clear. Some experts believe that it is caused by a random (de novo) gene change that occurs at the time of conception. This means that it is not usually inherited from parents.
How is PHACE syndrome diagnosed?
Okay, so how do doctors diagnose PHACE syndrome? Usually, a doctor will do a thorough physical exam and do some testing . They have specific diagnostic criteria , which are a set of guidelines. That's how they decide whether a child has PHACE syndrome.
Sometimes, doctors can get an idea of the condition from scans you have while you're pregnant. But other times, it may not be obvious until after the baby is born, or later in infancy.
Often, the doctor will first look for a large hemangioma on the child's body, especially on the face, neck, or scalp. The presence of one hemangioma and at least one other key feature related to PHACE may be sufficient for the diagnosis.
In addition, several tests may be done to look more closely at the baby's brain, heart, arteries, and eyes. These are the tests that are usually done:
- CT scans
- Echocardiograms – This looks at the structure and function of the heart.
- Eye exams – by an ophthalmologist.
- Hearing tests
- MRI scan – Take detailed pictures, especially of the brain and blood vessels.
- Ultrasound scan
How is PHACE syndrome treated?
When treating PHACE syndrome, the main focus is on preventing complications and helping the child live normally with their symptoms. Treatment varies depending on which organs or parts of the body the condition affects. This means that not every child will get the same treatment.
This type of treatment is usually done:
- Laser therapy for hemangiomas on the skin, or giving them medications (e.g., beta-blockers such as propranolol) to shrink them.
- Providing special education , speech therapy, and physiotherapy to help with learning at school.
- Sometimes surgery is required to correct defects in the heart, blood vessels, or brain.
- Administering various medications to control epilepsy, headaches, and hormonal imbalances.
- Providing supportive devices for hearing loss and glasses for vision loss.
Many families talk to a genetic counselor to learn more about treatment options for their child, as well as how to help them as they grow up. This can be very helpful.
Can this be prevented?
Unfortunately, there is no way to prevent PHACE syndrome. Because the exact cause is unknown, there is nothing you can do to reduce the risk of having a child with this condition.
But if you want to know more about your chances of having a child with a genetic condition, you can talk to your doctor about getting genetic testing .
What happens if my child has PHACE syndrome? What to expect?
If your child has this condition, they will need to have regular check-ups with their primary care physician and specialists in various fields (e.g., cardiologist, neurologist, ophthalmologist) to ensure that their symptoms are not affecting their quality of life. This is a condition that requires long-term management.
This condition can affect not only the child, but also you and the rest of the family. Therefore, it is very important to think about your mental health. Some people find great relief and strength from talking to a mental health professional .
So what is the life expectancy of someone with this condition? It really depends on how severe the child's symptoms are and which organs the disease has affected.
Children with severe brain and heart damage are more likely to have a shorter life expectancy. However, if a child has mild symptoms and they are well managed, they can live a normal life.
When should you see a doctor?
If your child has any of the following, be sure to see a doctor:
- If you have trouble eating or drinking
- If the child is not meeting developmental milestones appropriate for their age, that is, if they are developing late (e.g., not holding their neck up on time, not walking, not talking).
- If you do n't respond to things visually, that is, if you see something strange in your eyes.
- If you see a large, flat, red spot on your body (like a hemangioma).
When should you take your child to the hospital quickly?
If you see something like this, take your child to the nearest emergency room immediately , or call 1990:
- If you are showing signs of a stroke (e.g. sudden drooping of one side of the face, loss of arm function, inability to speak).
- If you have a seizure.
- If you have difficulty breathing, if you feel like you are suffocating.
- If the heartbeat is irregular, or if the baby turns blue.
Questions to ask the doctor/mrs.
You can ask your child's doctor or nurse questions like these. These will help you understand the situation:
- Does my child really have PHACE syndrome? Do I need to do any further tests to confirm it?
- Does my child need surgery ? If so, why and when?
- Is there a treatment to get rid of my child's hemangioma ? Will it be completely cured?
- Are there any side effects to these treatments? What are they?
- What are the things we need to be especially careful about for the child?
- What will my child's life expectancy be like?
- Will the child be able to live a normal life with this condition?
Finally, something to keep in mind
When you find out that your child has a rare condition and you don't know much about it, you can feel very shocked, sad, and scared. It's really hard to believe. This can have a huge emotional impact on you and your family.
Some children live well into adulthood with this condition. However, for others, life expectancy may be shortened due to severe symptoms. Joining a support group, or talking to a genetic counselor or mental health professional, can be a great source of comfort and strength for you and your family at this time. So don't hesitate to get that help.
Remember, you are not alone. There are doctors, nurses, and many others who can help you navigate these challenges, listen to your questions, and provide you with the information you need. So, stay strong and try to give your child the best that they need.
` PHACE syndrome, hemangioma, congenital diseases, brain abnormalities, heart defects, arterial defects, eye abnormalities, genetic diseases, rare diseases, child health
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