The Acronym PHACES stands for an association of symptoms that include:

                           Abnormality                        % of incidence

                                                                                          P- Posterior Fossa Malformations                  70%

                                                                                          H – Hemangiomas                                               90%

                                                                                          A - Arterial Anomalies                                        41%

                                                                                          C - Co-Arctation of Aorta & Cardiac Defects   26%

                                                                                          E – Eye Abnormality                                            23%

                                                                                         S- Sternal cleft defects

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  These symptoms have a varied incidence and severity in patients classified as having the PHACES Association.Other less common anomalies include, Dandy Walker Cysts, Mid-sternal raphe, sternal clefts and café-au-lait nevi. 88% of the reported cases involve female infants; most are identified first by an aggressive facial Hemangioma involving the airway. Many do not respond to oral steroids at 2.5mg/kg. Increased doses of 5mg/kg are often needed.

Identification of this combination of abnormalities was first reported by Dr. Ilona Frieden in 1996. Awareness and understanding of this syndrome is important in the evaluation and management of these infants. Undiagnosed cases of PHACES can result in life threatening complications that could be controlled if followed early on by physicians experienced in the diagnosis and managment of PHACES.  Physicians from Baylor College of Medicine reported in the September 1999 issue of Ophthalmology the first case of glaucoma associated with PHACES. The 9-month infant presented with a large facial Hemangioma, central nervous system abnormalities and cardiac anomalies. The glaucoma was detected in the left eye. Following 2 glaucoma surgeries the infant vision improved. In this case if early detection of the glaucoma was not noted the child could have suffered prolonged loss of vision and possibly a permanent deficiency. (1) The largest review of PHACE was reported from Baylor, and UCSF in the Journal of Pediatrics in July 2001. These physicians reported on the cases of 14 patients and reviewed an additional 116 cases in the medical literature. The review revealed a high incidence of arterial and structural central nervous system anomalies. Most affected infants present with only one dominant skin lesion, typically large facial Hemangioma but the hemangioma does not have to be restricted to the face/head. Untreated the associated CNS and arterial anomalies can develop into cranial bleeds, cardiac complications and other life threatening disorders. Cases in this review that were diagnosed, and treated early had low complications compared to those that went undiagnosed.

Infants presenting with large facial Hemangioma should be evaluated for CNS, arterial, cardiac and ocular abnormalities in the first weeks of life. Head MRI and MRA, Chest MRI, cardiac ultrasound and head sonogram should be considered for all such infants. Once diagnosed; management by a multidisciplinary team will allow for communication between the disciplines and with the family.

Maintaining cardiac and neurological stability is the goal as well as managing the aggressive growth of the Hemangioma. In the 1999 Baylor study the facial Hemangioma was treated with medical management and was at writing responding well to treatment. Some cases reviewed in the literature demonstrated a dramatic response to high dose prednisone but re-growth was noted following a taper from the dosage and the lesions were still a significant concern at 1 year of age. A few cases where laser and or surgery were used in the first year had a more notable improvement at 1 year, similar to other facial Hemangioma management strategies. However the other abnormalities found in PHACES sometimes preclude the cosmetic options that are available to children that do not present with complicating symptoms.

Another abnormality noted in the literature and seen to be associated with PHACES is a sternal clefting or suprumbilical midabdominal raphe. Dr. Fran Blei of NYU Medical Center reported in Pediatric Dermatology, March 1993 on an infant presenting with the abdominal scar, sternal atresia and a large cutaneous facial Hemangioma. The reddish purple scar was midline, vertical, healed and hypertrophic. The Hemangioma grew rapidly, and was of concern. It ulcerated, interfered with feeding and it was believed it would continue to grow if no medical intervention was taken. Oral steroids were considered but the prolonged use of this agent was of concern to the family in light of the other presenting symptoms of sternal atresia. It was decided that laser and interferon alpha-2a would be used to treat the Hemangioma. The Hemangioma responded to laser and interferon alfa-2a with dramatic improvement seen in 9 days.

There are many associated abnormalities of PHACES are long and varied. Physicians involved in multidisciplinary clinics report that cases usually involve a large hemangioma covering a territory rather than arising from a single focus. The literature supports that PHACES should be considered in evaluating facial hemangiomas. This will minimize the longer term complications of the anomalies.

PHACES has a varied presentation- NOVA is dedicated to assisting all affected by PHACES

The Hemagnioma Investigative Group currently supports 4 initivies related to PHACE.

• A high level genomic study using 2 approaches that are examining a genetic basis for PHACE.  This is a very exciting project and one that NOVA will be supporting by publicizing and assisting the researchers by recruiting patients.  The study will need blood samples from 5-75 patients.  While there are no gurantees that they will find a cause for PHACE it is certainly worht looking into.  NOVA will have more information about this research in the next few months.

• Dr. Denise Metry at Baylor College and Texas Children's Hospital is organizing a PHACE Registry.  Through the Caitlin Rose Moncrief Memorial NOVA is supporting this important patient registry.

• A systematic study of MRIs & MRAs from known PHACE patients with cerebral and cerbrovascular disease.  The University of California San Francisco has one of the world's preeminent diagnostic pediatric neuroradiologists reviewing imaging studies of patients.  He will be systematically characterizing and categorizing the CNS changes.  Funding is needed for this project.

• The University of Wisconsin is calling back known PHACE patients and doing neurocognitive testing to look at long term outcomes.

The HIG and several multi-disciplinary Vascular Anomalies Teams will be collaborating in these projects.  Medical Research is very costly, funding for these projects is needed at all levels.

NOTE:  NOVA is dedicated to the education, advocacy and research of PHACES.  In 2006 we donated money through the Caitlin Rose Moncrief Memorial to the Texas Children's Hospital's PHACES patient registry.  In 2007 we will be enhancing our support of the PHACES community.

There is a new site on the internet for PHACES Support.  It is managed by parents of children with PHACES.  These children have a wide range of symptoms in both type and severity.  It serves as a great support for families.  Many of these families attended the NOVA Family Conference in April 2007 which allowed them to meet for the first time

.References:

Frieden IJ, Reesev V. Cohne D. Phaces. ARCH Dermatol. 1996;132:307-311

Metry D, Metry DW, Dowd CF, Barkovich AJ, Frieden IJ. The Many Faces of PHACE Syndreom. J. Pediatric. 2001 Jul:139(1):117-23

For more information on PHACES visit: www.medscape.com/viewarticle/442032   (you must be a medscape member)

NOVA PROVIDES THIS INFORMATION TO FAMILIES AS A RESOURCE. IT IS NOT INTENDED TO ENGAGE IN THE PRACTICE OF MEDICINE OR TO REPLACE THE PHYSICIAN. NOVA DOES NOT CLAIM TO HAVE MEDICAL KNOWLEDGE. NOVA DOES NOT ENDORSE ANY PARTICULAR PHYSICIAN, TREATING FACILITY OR TREATMENT PROTOCAL. IN ALL CASES NOVA AND ITS BOARD OF DIRECTORS RECOMMENDS THAT YOU SEEK THE OPINION OF A PHYSICIAN EXPERIENCED IN THE MANAGEMENT OF HEMANGIOMAS AND VASCULAR MALFORMATIONS. 

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