PHACE syndrome is a
neurocutaneous disorder characterized by large cervicofacial infantile
hemangiomas and associated anomalies: posterior fossa brain malformation,
hemangioma, arterial cerebrovascular anomalies,
coarctation of the aorta and cardiac defects, and eye/endocrine abnormalities of the brain. When ventral developmental defects (sternal clefting or supraumbilical raphe) are present the condition is termed PHACE. In this report, we describe three PHACE cases that presented unique features (affecting one of the organ systems described for this syndrome) that have not been described previously. In the first case, a definitive
PHACE association, the patient presented with an ipsilateral mesenteric lymphatic malformation, at the age of 14 years. In the second case, an anomaly of the posterior segment of the eye, not mentioned before in PHACE literature, a
retinoblastoma, has been described. Specific
chemotherapy avoided enucleation. And, in the third case, the child presented with an unusual midline frontal bone cleft, corresponding to Tessier 14 cleft. Two patients'
hemangiomas responded well to
propranolol therapy. The first one was followed and treated in the pre-
propranolol era and had a moderate response to
corticoids and
interferon.