Management of syndromes related to infantile hemangiomas

Abstract

While localized infantile hemangiomas (IHs) are often benign, except when they are located near a noble structure such as the airways or the orbital area, segmental IHs may be associated with birth defects. These cases should be very carefully studied for life-threatening conditions (heart failure, respiratory distress), functional risks (amblyopia, swallowing disorders, digestive and renal alterations, etc.), aesthetic risks (especially IHs of the face), and painful ulcerations. PHACE is an acronym indicating a disorder characterized by the association of posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and other cardiac defects, and eye abnormalities. Indeed the ISSVA's classification separates clearly vascular tumors (the group that includes IHs) from vascular malformations, indicating, at the same time, that errors in angiogenesis or vasculogenesis that occur in embryonic phase may lead to stable lesions (i.e., vascular malformations) but, quite obviously, not to proliferative lesions (i.e., IHs). From this starting point, it was conceptually clear that vascular tumors and vascular malformations could not be present in the same individual, unless by chance. However, despite the fact that the etiopathogenesis of most vascular anomalies is still unknown, the description of many cases of PHACE syndrome and, in parallel, the description of LUMBAR/PELVIS/SACRAL syndrome in other patients, make likely that a pathogenic noxa can provoke either vascular tumors or vascular malformations in the same individual.