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PHACE syndrome is a rare congenital disorder that affects blood vessels, the skin, and the brain.
The acronym PHACE stands for the following:
Posterior fossa malformations
- Hemangiomas
- Arterial anomalies
- Cardiac defects
- Eye abnormalities
PHACE syndrome is characterized by large facial hemangiomas (which are benign tumors made up of extra blood vessels) and structural defects in the brain and other organs, such as the heart and blood vessels. The severity of PHACE syndrome varies widely as some individuals show mild symptoms, whereas others experience more severe symptoms that can affect their quality of life and overall health.
Treatment options depend on the specific symptoms and may include medications, surgery, and other medical interventions. Individuals with PHACE syndrome should receive appropriate care and support from a team of healthcare providers who are experienced in treating this condition.
With the right care, many individuals with PHACE syndrome can lead healthy and fulfilling lives.
How serious is PHACE syndrome?
PHACE syndrome is a rare and complex congenital disorder, which affects various parts of the body and can lead to serious health problems if left untreated. It is considered a potentially life-threatening condition due to large, rapidly growing facial hemangiomas and the associated risk of vital organ compromises, such as the brain, heart, and eyes.
In some cases, PHACE syndrome can cause significant disfigurement, developmental delays, and intellectual disabilities, which can have a significant impact on quality of life. Early diagnosis and prompt, aggressive treatment are crucial to minimize the risk of long-term complications and improve outcomes.
How common is PHACE syndrome?
PHACE syndrome is a relatively rare condition that affects approximately 1 in 20,000 to 1 in 50,000 newborns. PHACE syndrome is estimated to occur in two to three percent of infantile hemangioma cases. It is considered one of the most frequent neurocutaneous syndromes.
However, the exact incidence of PHACE syndrome is unknown as is not well recognized by many healthcare providers and can be easily misdiagnosed. Additionally, the syndrome can have varying degrees of severity; some individuals present with mild symptoms, whereas others have more severe features. It is estimated that there are over 300 cases of PHACE syndrome in the literature.
What are the signs and symptoms of PHACE syndrome?
Symptoms of PHACE syndrome can vary greatly among individuals. Common signs and symptoms of PHACE syndrome include hemangiomas, headaches that are more severe and frequent than in children without the disorder, speech and language delays, difficulty feeding or swallowing, migraines, dental problems, and endocrine issues.
Common signs and symptoms of PHACE syndrome include:
- Posterior fossa malformations: The most common neurological manifestation of PHACE syndrome, which includes anomalies such as hindbrain herniation, Chiari malformation, and spinal cord defects.
- Hemangiomas: A hemangioma is a type of birthmark made up of abnormal blood vessels. Hemangiomas are a hallmark of PHACE syndrome and can occur anywhere on the body but are most commonly found on the face, neck, and scalp.
- Arterial anomalies: PHACE syndrome is associated with several arterial anomalies, including stenosis (narrowing of the blood vessels), occlusion (blockage of the blood vessels), and aneurysms (bulging or weak areas in the blood vessels).
- Cardiac defects: Some individuals with PHACE syndrome may have congenital heart defects, such as septal defects (holes in the heart), coarctation of the aorta (narrowing of the main blood vessel leaving the heart), and patent ductus arteriosus (a heart problem that occurs in newborns).
- Eye abnormalities: These are common in PHACE syndrome and may include strabismus (eye misalignment), nystagmus (involuntary eye movements), and optic nerve hypoplasia (underdevelopment of the optic nerve).
- Cranial nerve palsies: Some individuals with PHACE syndrome may experience cranial nerve palsies, which cause weakness or paralysis of the cranial nerves. These can lead to difficulty with movement, sensation, or function in the face, neck, or head.
- Skeletal anomalies: May include scoliosis (curvature of the spine), syndactyly (webbed fingers or toes), and clavicular defects (problems with the collarbone).
- Endocrine abnormalities: Some individuals with PHACE syndrome may experience endocrine abnormalities, such as hypothyroidism (underactive thyroid), adrenal insufficiency (inadequate production of hormones by the adrenal glands), and growth hormone deficiency (low levels of growth hormone).
Each individual may experience a unique combination of these symptoms. Patients should seek medical attention for a proper diagnosis.
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SLIDESHOW
Childhood Diseases: Measles, Mumps, & More See SlideshowWhat causes PHACE syndrome?
PHACE Syndrome is a rare congenital disease caused by a gene mutation on chromosome 9q22.3. The exact causes of PHACE syndrome are not well understood, but there are several known risk factors and underlying mechanisms that are thought to contribute to the development of this condition.
The main causes of PHACE syndrome include:
- Genetic mutations: There is evidence to suggest that some cases of PHACE syndrome may be caused by genetic mutations. Mutations in genes involved in regulating blood vessel formation, heart development, and brain development may contribute to the development of the various symptoms associated with PHACE syndrome.
- Environmental factors: Certain environmental factors, such as exposure to certain chemicals or drugs during pregnancy, may increase the risk of developing PHACE syndrome. For example, exposure to certain anticonvulsants and teratogens during pregnancy has been linked to an increased risk of developing PHACE syndrome.
- Abnormal embryonic development: PHACE syndrome is thought to result from abnormal embryonic development during the early stages of pregnancy. This could be caused by various factors, including genetic mutations, environmental factors, or disruptions to normal embryonic development.
- Abnormal blood vessel formation: PHACE syndrome is often characterized by abnormalities in the formation of blood vessels, including hemangiomas (benign tumors composed of blood vessels) and arterial anomalies. These abnormalities result from disruptions in the normal regulation of blood vessel formation during embryonic development.
- Abnormal heart development: Cardiac anomalies and coarctation of the aorta (narrowing of the aorta) are common features of PHACE syndrome. These anomalies result from disruptions in the normal development of the heart during embryonic development.
- Abnormal brain development: Posterior fossa anomalies, including encephalocele (protrusion of brain tissue through a defect in the skull) and occipital encephalocele (protrusion of brain tissue through a defect at the back of the head), are common features of PHACE syndrome. These anomalies result from disruptions in the normal development of the brain during embryonic development.
- Abnormal eye development: Eye anomalies and ophthalmologic abnormalities, such as cataracts and strabismus (misalignment of the eyes), are common features of PHACE syndrome. These anomalies result from disruptions in the normal development of the eyes during embryonic development.
PHACE syndrome is believed to be caused by environmental and genetic factors although the exact cause is still unknown.
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How is PHACE syndrome diagnosed?
PHACE syndrome is typically diagnosed based on characteristic symptoms, a detailed patient history, and a thorough clinical evaluation. The diagnosis may involve running additional tests, such as an MRI or MRA of the head, neck, and chest, an echocardiogram, and tests to look for features of PHACE syndrome.
Steps involved in diagnosing PHACE syndrome include:
- Clinical evaluation: A doctor will conduct a thorough physical examination of the child and take a detailed medical history. This will help identify any physical abnormalities or symptoms that could be related to PHACE syndrome.
- Skin examination: A dermatologist will examine the child's skin to look for any vascular birthmarks, such as hemangiomas, which are one of the hallmarks of PHACE syndrome.
- Imaging tests: Imaging tests, such as MRI, CT scans, and angiograms, are used to identify structural abnormalities in the brain, neck, and heart. These tests are essential in diagnosing PHACE syndrome because they can detect posterior fossa malformations, arterial anomalies, and cardiac defects.
- Eye examination: An ophthalmologist will examine the child's eyes to look for any abnormalities, such as strabismus, which is a misalignment of the eyes.
- Blood tests: Blood tests may be conducted to check for any underlying genetic disorders associated with PHACE syndrome.
- Genetic testing: In some cases, genetic testing may be recommended to confirm a diagnosis of PHACE syndrome. This may involve genetic counseling and the analysis of the child's DNA to identify any mutations or genetic changes associated with the disorder.
A diagnosis of PHACE syndrome is usually made based on a combination of clinical evaluation, skin examination, imaging tests, eye examination, blood tests, and genetic testing. The earlier the diagnosis is made, the better the outcomes for the child as early treatment can prevent complications and improve the affected individual’s quality of life.
How is PHACE syndrome treated?
Treatment of PHACE Syndrome typically includes a team of medical professionals, including a dermatologist, neurologist, and other specialists, to help manage the symptoms and complications of the condition.
Treatment options for PHACE syndrome include:
- Medical management of hemangiomas: Hemangiomas are benign tumors made up of blood vessels and are one of the hallmark features of PHACE syndrome. Medical management of hemangiomas typically involves using corticosteroids, propranolol, and other drugs to reduce their size and prevent further growth.
- Surgical intervention: In some cases, surgery may be required to remove hemangiomas or repair other anomalies associated with PHACE syndrome. For example, reconstructive surgery may be necessary to correct facial deformities caused by large hemangiomas.
- Radiation therapy: Can shrink hemangiomas and may be recommended in severe cases where medical management has not been effective.
- Dermatological care: Patients with PHACE syndrome may require dermatological care to manage skin issues such as redness, itching, and scarring, which result from hemangiomas.
- Management of cardiovascular anomalies: Patients with PHACE syndrome may have cardiovascular anomalies, such as congenital heart defects, which need to be identified and treated. This may involve surgery or other medical interventions.
- Ophthalmological care: Patients with PHACE syndrome may have eye abnormalities, such as strabismus (misalignment of the eyes) or amblyopia (lazy eye), which can affect vision. Ophthalmologists can diagnose and treat these issues.
- Neurological care: Some patients with PHACE syndrome may have posterior fossa anomalies, such as brain malformations, which can impact neurological function. Neurologists can evaluate these issues and provide treatment if necessary.
- Psychological support: Living with a rare and complex disorder like PHACE syndrome can be emotionally challenging for the patient and their family. Psychological support and counseling can help individuals and families cope with the physical and emotional challenges associated with PHACE syndrome.
The treatment for PHACE syndrome varies from patient to patient, depending on the specific symptoms and anomalies they experience. A multidisciplinary team of healthcare professionals works together to develop a comprehensive and individualized treatment plan for each patient.
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https://rarediseases.info.nih.gov/diseases/8338/phace-syndrome
https://pedclerk.bsd.uchicago.edu/page/phaces-syndrome
PHACE syndrome: clinical manifestations, diagnostic criteria and management https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001075/
PHACES Syndrome and Associated Anomalies: Risk Associated with Small and Large Facial Hemangiomas https://www.ajronline.org/doi/pdf/10.2214/AJR.20.23488
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