PHACE syndrome in Infant/Neonate
PHACE syndrome is thought to arise from a developmental error occurring during the early vasculogenesis of the first trimester. Ninety percent of those affected are female, and no familial tendency is known. PHACE syndrome can be diagnosed by the presence of the large segmental hemangioma and 1 major or 2 minor criteria; possible PHACE syndrome is ascertained when the hemangioma is only accompanied by 1 minor criterion (see References).
There appears to be some correlation between the facial segment occupied by the hemangioma and the underlying vascular / structural malformations. For instance, hemangiomas involving segments 1 and 4, the frontotemporal and frontonasal areas, have a higher risk for cerebrovascular and ophthalmologic defects. Hemangiomas involving mandibular segment 3 have an increased incidence of midline and cardiovascular defects, in addition to the laryngeal involvement associated with this area. Interestingly, if the hemangioma is unilateral, underlying structural anomalies of the brain tend to occur on the same side, presumably from a contiguous defect.
Other emerging associations that may present beyond infancy include headaches, speech delay, auditory anomalies, dysphagia, delayed puberty, and dental anomalies.
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified
78572006 – Neurocutaneous syndrome
Differential Diagnosis & Pitfalls
- Segmental capillary malformations in Sturge-Weber syndrome, involving the V1 area, with extracutaneous manifestations such as leptomeningeal malformations and glaucoma
- Segmental capillary malformations in other vascular overgrowth syndromes or phacomatoses, such as Cobb syndrome
- Kaposiform hemangioendothelioma, plaque type
- Congenital hemangioma, rapidly involuting
- Wyburn-Mason syndrome (segmental arteriovenous malformation)
- Segmental infantile hemangioma with laryngeal compromise