PHACES Syndrome: From the Brain to the Face via the Neural Crest Cells

CNS imaging findings associated with Parry–Romberg syndrome and en coup de sabre: correlation to dermatologic and neurologic abnormalities

“…For example, key CNS imaging findings are strongly lateralized to the ipsilateral cerebral hemisphere in most patients who have several other neurocutaneous syndromes with unilateral facial cutaneous involvement, such as Sturge-Weber syndrome, posterior fossa malformations-hemangiomas-arterial anomalies-cardiac defects-eye abnormalities (PHACE) [14,15], cerebrofacial arteriovenous metameric syndrome [16], linear epidermal nevus syndrome, and encephalocraniocutaneous lipomatosis [17]. Developmental and genetic causes, such as abnormal vascular development [18], mosaic genetic mutations [19,20], and abnormal neural crest development [21,22], are proposed to underlie these syndromes, accounting for ipsilateral cutaneous CNS abnormalities with common developmental origins. The presence of frequent bilateral CNS findings observed in our study suggests that the pathomechanism of PRS and ECS does not arise strictly from a unilateral developmental insult and likely differs from these other neurocutaneous syndromes with unilateral facial involvement.…”

Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome

“…Plus, it is seen in approximately 30% of those with >5 cm segmental hemangioma patients. They are segmental plaque-like hemangiomas, derived from embryological protuberances known as placodes, which contain neural crest cell migrated from the dorsal crest and develop into the mandibular, maxillar, and frontonasal processes [ 6 , 7 ]. This may explain why patients with posterior fossa malformations have arterial and cutaneous anomalies in the same dermatome.…”

Corkscrew aortic arch in PHACES syndrome: Multimodal imaging of an unusual morphology of tortuous aortic arch in a rare but well-defined syndrome

“…Neural crest cells migrate to cranium, pharyngeal arches, and heart and lead to the formation of neural, vascular, cardiac, bony, and other structures. [1] PHACES syndrome refers to a spectrum of developmental field defects with a common denominator of a large segmental craniocervical hemangioma. [23] This diffuse aortocraniocerebral vasculopathy results from abnormal neural crest cell migration and peculiarly common in females.…”

“…An early embryonic insult on neural crest-derived structures leads to a vasculopathy named PHACES syndrome, an acronym for Posterior fossa malformations, Hemangiomas, Arterial, Cardiac, Eye, and Sternal abnormalities. [1] Cardiovascular malformations, often aortic coarctation, occur in 40% of patients. [23] The peculiarity of aortic arch abnormality in this syndrome includes tortuosity of the arch vessels, involvement of transverse arch, stenosis or agenesis of branches, and frequent aberrancy of subclavian artery, which makes clinical and echocardiographic diagnosis as well as surgical management very challenging.…”