PHACES is thought to be due to an error in development that probably occurs some time during the first three to 12 weeks of gestation, explained Denise Metry, MD, Associate Professor of Dermatology and Pediatrics at Texas Children’s Hospital and Baylor College of Medicine in Houston, Tex. Dr. Metry, together with her mentor Dr. Frieden, is considered an expert in PHACES.
Explore This IssueMay 2006
Not all large facial hemangiomas will have accompanying anomalies; in fact, large facial hemangiomas without anomalies are probably more common that those associated with PHACES, she said.
Treatment of PHACES is cross disciplinary. Otolaryngologists should know how to diagnose PHACES, Dr. Metry said. The currently recommended work-up is as follows:
- MRI (magnetic resonance imaging) and MRA (magnetic resonance angiography) of the head;
- Formal ophthalmologic exam;
- Cardiac MRA or echocardiography; and
- Skin exam for sternal defects and supraumbilical raphé (linear, scar-like lesion above the umbilicus).
Referral to another specialist depends on the type of accompanying anomalies that are identified during the work-up. At this time, there is no means of prevention. Any potential treatment depends on the specific defects identified, Dr. Metry noted. Hundreds of anomalies are associated with PHACES, she added. Some of these are quite rare and unique.
Dr. Metry and colleagues are in the process of setting up a Web-based patient registry that will help aid collaborative research and serve as an educational resource for families with PHACES children.
The majority of hemangiomas appear on the head and neck, and otolaryngologists are often the treating or consulting physicians.
Many vascular lesions may resemble hemangiomas, but a basket of vascular malformations, lymphatic malformations, and venous malformation that resemble hemangiomas require different treatment and have different life cycles, Dr. Blei explained. GLUT-1 staining should be done on surgical specimens when the diagnosis is questionable, she added.
In general, treatment of facial hemangiomas that are disfiguring and affect function relies on oral corticosteroids, strong topical steroids, or intralesional steroid injections; surgery or laser surgery may be needed to prevent morbidity. Complicated hemangiomas that continue to grow aggressively, either internally or externally, are first treated with oral steroids. If there is no response, vincristine has been used. Ulcerated hemangiomas often respond well to topical recombinant platelet-derived growth factor (Regranex), and those associated with bleeding respond to a hemostatic gelatin sponge (Surgifoam), Dr. Blei explained.
The need for surgery depends on your endpoint, said Dr. Waner, who considers the appropriate endpoint to be restoration of a completely normal appearance.