| Newborn/infant evaluation |
Complete PHACE evaluations for those at risk: - Echocardiogram
- MRI/MRA brain/neck/arch
- Dilated eye examination with an ophthalmologist with expertise in pediatrics
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| Health care maintenance in patients with possible or definite PHACE |
| Patient age | Health care maintenance suggestions |
| Newborns and infants | - Referral to pediatric neurology if 1 or more of the following:
- Structural brain anomalies.
- Hypotonia or other abnormalities on neurologic examination.
- Delayed development/other neurodevelopmental issues.
- Intermediate or high-risk neurovascular anomalies.
- Neurologists should decide upon the frequency and timing of repeat surveillance imaging for progressive arteriopathy and safety considerations for anesthesia:
- Management of infantile hemangioma and any potential complications.
- Awareness of risk of airway IH.
- Routine well-child health care maintenance with particularly close attention to somatic growth (growth curves) and developmental milestones (especially dysphagia, feeding difficulties, hypotonia, and language or gross motor delays). Physical examination should include evaluation for sternal defects and supraumbilical raphe.
- Repeat hearing screen (even if normal as newborn).
- Specialty-driven referral and follow-up visits (specialists with pediatric expertise):
- Dermatology or other specialists for cutaneous hemangioma care (eg, propranolol dosing, tapering, pulsed dye laser treatment, etc).
- Neurology if structural brain abnormalities or intermediate or high-risk neurovascular anomalies, hypotonia, developmental delays, or other abnormalities on neurologic examination.
- Cardiology if congenital heart defects, aortic anomalies, or cervical or subclavian arterial anomalies.
- ENT for airway or hearing issues.
- Endocrinology if growth issues.
- Ophthalmology if periocular IH or structural/developmental eye anomalies.
- Other specialists as relevant.
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| Toddler | - Routine well-child health care maintenance with particularly close attention to somatic growth (growth curves) and developmental milestones (especially dysphagia, feeding difficulties, hypotonia, language, or gross motor delays).
- Dental evaluation including evaluation for enamel defects or dental root anomalies.
- Screen for presence of migraine headache or migraine equivalents (eg, cyclic vomiting, phonophobia, and photophobia).
- Provide counseling about stroke signs and symptoms in a child.
- Consider repeat imaging on a case-by-case basis (eg, depending on severity of anomalies, signs and symptoms, and previous MR findings).
- Refer to PHACE registry and PHACE Syndrome Community or other relevant support network (if outside of the United States).
- If significant residual IH, scarring, or distortion of anatomic landmarks, consider consultation with/referral to surgical specialists in anticipation of need for reconstructive procedures (typically at age 3 to 5 years, an age by which completion of IH involution would be expected).
- Follow-up with relevant specialists (refer to newborn/infant section above).
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| School aged | - Routine well-child health care maintenance with particularly close attention to somatic growth (growth curves) and developmental milestones:
- High index of suspicion for growth hormone deficiency and refer to endocrinology as needed.
- Review school performance to assess for learning differences, consider neuropsychiatric testing.
- Screen for the presence of headaches or migraine equivalent.
- Consider repeat MRI/MRA of the brain and neck (in conjunction with neurology):
- Low risk: repeat if symptoms develop.
- Intermediate risk: repeat when able to obtain without sedation.
- High risk:
- Timing and modality of surveillance to be determined in consultation with neurology, neuroradiology, and/or neurosurgery.
- Consider daily aspirin for stroke prevention.
- Discuss safety considerations for procedures requiring anesthesia.
- If clinical signs or imaging findings suggestive of ischemia or moyamoya vasculopathy, referral to neurosurgery in conjunction with neurology for further management.
- Provide counseling about stroke signs and symptoms in a child.
- Dental evaluation including evaluation for enamel defects or dental root anomalies.
- Follow-up with relevant specialists (examples below):
- If residual cutaneous IH present, consider treatment options to diminish these, if bothersome to child.
- Depending on which structural anomalies are present (eg, CNS, cardiac, etc) make sure there is follow-up with relevant specialists who can consider whether repeat imaging studies are needed to monitor for progression.
- If not already connected, consider referral to PHACE registry and PHACE Syndrome Community or other relevant support network (if outside of the United States).
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| Adolescents and adults | - Routine health care maintenance.
- Identify relevant adult specialist(s) and, if needed, educate regarding PHACE care to help in transition of care.
- Review school or work performance for any developmental concerns.
- Screen for presence of headaches or migraine equivalent.
- If residual cutaneous IH present, consider treatment options to diminish these, if symptomatic or bothersome to patient.
- Follow-up with relevant specialists for structural anomalies (eg, neurology, cardiology, and ophthalmology). Consider whether repeat imaging studies are needed to monitor for progression.
- For female patients: consider whether combined estrogen-progesterone contraception should be avoided (eg, in a smoker who has migraines with aura or if history of stroke). Provide counseling for alternative effective forms of contraception when appropriate.
- For female patients considering pregnancy or who are pregnant: if cerebrovascular or cardiac anomalies are present, consider referral for high-risk obstetrical consultation.
- Monitor for depression and anxiety.
- Provide counseling about stroke signs and symptoms.
- Consider referral to PHACE registry and PHACE Syndrome Community or other relevant support network as part of adolescent transition of care of adults who are not yet connected with a support network.
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