PHACES association (PHACES syndrome)
The acronym PHACES refers to the association of a large segmental hemangioma, usually on the face or neck, in combination with one or more of the anomalies listed below. It affects girls nine times more often than boys. Every child diagnosed with PHACES may have different medical issues. Some are mild and some are much more severe. PHACES is uncommon, but if it is suspected it is important to make sure the patient is evaluated by a team of specialists with expertise in vascular anomalies.
P - Posterior fossa (structural brain) abnormalities. These are developmental abnormalities of the brain. They are usually present at birth and do not develop after the baby is born.
- Posterior fossa defects.
- Hypoplasia or agenesis of the cerebrum, corpus callosum, or septum pellucicum.
- Subependymal and arachnoid cysts.
- Frontal lobe calcifications.
- Absent foramen lacerum.
- Microcephaly.
- Cortical dysplasia.
- Heterotopic grey tissue.
- Polymicrogyria.
H - Hemangiomas. These are usually large, plaque-like segmental hemangiomas involving the head and/or neck. Segmental is defined as showing linear and/or geographic patterning over a specific cutaneous territory.
A - Arterial (cerebrovascular) abnormalities of the neck and brain. The best way to diagnose these abnormalities is with radiological imaging. Magnetic resonance imaging and magnetic resonance arteriogram appear to be the most sensitive tools to screen for these abnormalities:
- Hypoplasia of arteries.
- Aberrant origin or course.
- Stenosis/occlusion of arteries.
- Aneurysm formation.
- Persistent embryonic arteries.
C - Cardiac and aortic arch anomalies:
- Coarctation of the aortic arch.
- Anomalies of the subclavian arteries.
- Aneurysms of the ascending aorta, aortic arch, subclavian or innominate arteries.
- Congenital valvular aortic stenosis.
- Dextroposition of the aorta.
- Septal defects.
- Patent ductus arteriosus.
- Pulmonary stenosis.
- Anomalous pulmonary veins.
- And others.
E - Eye abnormalities:
- Microphthalmos.
- Retinal vascular abnormality.
- Persistent fetal retinal vessels.
- Optic nerve hypoplasia.
- Congenital cataracts/third nerve palsy.
- Sclerocornea.
- Lens coloboma.
- Exophthalmus.
- Excavated optic disc anomalies.
- "morning-glory."
- Peripapillary staphyloma.
- Horner syndrome.
S Sternal abnormalities:
- Sternal defects-partial or complete agenesis/ cleft or pit.
- Supraumbilical raphe.
- Omphalocele.
Children that have a large facial hemangioma of infancy may be at risk for other neurological problems even after the hemangioma has completely involuted. These problems may include migraine headaches, seizures, developmental delays, speech delay and very rarely ischemic strokes. Such symptoms may be the result of structural defects or cerebrovascular events from the arterial abnormalities.
Children with PHACES syndrome may also have endocrine abnormalities. They may have growth hormone deficiency, pituitary anomalies, hypopituitarism, hypothyroidism or diabetes insipidus.
There is no known cause of PHACES syndrome and the pathogenesis is poorly understood, though awareness of the clinical spectrum of the association is improving. There have been significant advance in the understanding and recognition of this syndrome. Our center, in collaboration with the Hemangioma Investigator Group, have several ongoing research studies. These and other such research efforts may lead to improved diagnostic protocols, earlier detection of the associated pathologies and potential drug targets for treatment.
Research currently focusing on PHACES association (PHACES syndrome)
A Phase II Randomized Clinical Trial Assessing the Efficacy and Safety of Oral Prednisolone vs. Intravenous Vincristine in the Treatment of Infantile Hemangiomas
Infants with large hemangiomas are often treated systemically with oral steroids (Prednisolone) to prevent complications. The best treatment for hemangiomas is not known. Also, the best method to measure the response of hemangioma to treatment is not known. The goals of this study are to determine whether Prednisolone or Vincristine is more effective and safer for treating infants with hemangiomas and to determine if changes on MRI scan are more sensitive than changes on clinical exam for detecting responses to treatment. A total of 50 babies younger than 6 months old with hemangiomas requiring treatment will take part in this study. Participating hospitals include Children's Hospital of Wisconsin, Riley Hospital for Children in Indianapolis and the University of California, San Francisco. Patients enrolling in this study will be randomly assigned to receive either daily Prednisolone by mouth or weekly Vincristine in a vein. Response to treatment will be monitored by clinical exams every two weeks and by an MRI at study entry and six and 12 weeks later. Patients whose hemangiomas have grown by week six will be switched to the other drug to complete a total of 12 weeks of therapy. Side effects of each medication will be monitored closely. Participation in this study will last two years, with 12 weeks of treatment and follow-up visits every two-three months for two years.
Large Facial Hemangioma Study
Large hemangiomas of the face can be associated with anomalies of the blood vessels of head and chest. The acronym PHACES indicates the association of Posterior fossa and other brain malformations, facial Hemangioma, Arterial anomalies, Coarctation of the aorta and other cardiac defects, Eye abnormalities and Sternal malformations. This study focuses on the presence of PHACES syndrome in children with large facial hemangiomas. The goal of this study is to better understand the risk of this syndrome and to develop guidelines for its evaluation and management. Study subjects will be recruited through the HIG study sites and the Dermatology Clinic at Children's Hospital of Wisconsin. Parents will be interviewed about their personal, medical and family history. Patients will be evaluated for facial hemangiomas with risk of PHACES syndrome. This includes a skin, eye and neurological examination, photograph, magnetic resonance imaging (MRI) of the head, neck and chest, and lab tests requiring samples of blood, urine or stool.
Genetic Basis of Hemangiomas
Genes are linked to many health conditions; however, it is unknown whether genetic predisposition (family history) plays a significant role in the development of infantile hemangiomas, PHACES syndrome or other vascular anomalies. The purpose of this study is to determine if there are genes common to children diagnosed with infantile hemangioma or other vascular anomalies. This information will allow physicians to improve care for affected patients and provide parents with more complete information regarding the cause of their child's condition. All participants will be recruited through the Dermatology Clinic at Children's Hospital of Wisconsin or informational or educational events held within the community. Participation requires one visit lasting 15 to 20 minutes. Enrollment may occur either at the time of clinic visit or, if desired, at a separate research appointment. Researchers will collect either a buccal (cheek cells) or small blood sample and interview parents regarding their personal, medical and family history.
For more information regarding these studies or if you are interested in enrolling your child, please call one of the study coordinators:
Amy Heinrich (414) 456-5769
Sia Vue (414) 456-5649 |
