PHACE without Face? Infantile Hemangiomas of the Upper Body Region with Minimal or Absent Facial Hemangiomas and Associated Structural Malformations

Abstract

Infantile hemangiomas can be associated with congenital anomalies such as PHACE syndrome with facial hemangiomas and genitourinary and spinal anomalies in the setting of lower body hemangiomas. We describe five infants in whom segmental hemangiomas involving the upper torso and extremities with absent or small facial hemangiomas were associated with structural anomalies similar to those reported with PHACE syndrome, including three with structural arterial anomalies of the subclavian arteries, three with aortic arch anomalies (right sided or narrowed arch), two with congenital heart disease (atrial septal defect and ventricular septal defect; tetralogy of Fallot), one with a retinal scar, and one with a sternal defect (scar). Two of five had small facial hemangiomas of the lower lip, but none had large segmental hemangiomas of the face. Three of five would have met diagnostic criteria for PHACE but lacked a facial hemangioma of 5 cm in diameter or greater. Patients with segmental arm and thorax hemangiomas may have associated structural abnormalities with overlapping features of PHACE, suggesting that a similar syndrome can occur in this clinical setting.

Abortive haemangioma in PHACE(S) syndrome

“…Reports of abortive haemangiomas in PHACE(S) syndrome are not common; however, the absence of a facial haemangioma or the presence of only a small facial haemangioma has been described. 7 In addition, a segmental abortive haemangioma of the lumbosacral area/lower body was previously reported as part of the LUMBAR association, which its similarity to PHACE(S) syndrome, suggest that they represent regional variations of the same disease. 8 The recognition that the facial or scalp lesion was an abortive haemangioma in our cases, necessitated additional work up which eventually led to the identification of other features of PHACE(S) syndrome, which might have been missed otherwise.…”

Haemangioma: clinical course, complications and management

“…Haemangiomas involving the frontotemporal (S1) or mandibular (S3) segments are at particularly high risk, although any segment may be involved, and rare cases of PHACE have been reported with segmental haemangiomas of the torso and extremities in the absence of facial segmental IH. 60,61 The most common ex- tracutaneous findings are arterial anomalies of the cerebral vasculature followed by coarctation of the aorta. 60 Consensus criteria for PHACE have been proposed.…”

Holmes heart and tetralogy of Fallot in association with PHACE

“…Complex congenital heart disease (requiring surgical repair because of severe or life‐threatening symptoms) has rarely been reported in PHACE, with three cases of ToF and two of tricuspid atresia . Two other patients had ToF with facial IHs less than 5 cm in diameter that failed to meet PHACE criteria, although one also had a large regional IH of the trunk and upper extremity, and both had additional arteriopathies . Perhaps the incidence of complex congenital heart disease in PHACE is low because a larger portion of the genes involved need to be affected to drastically affect the heart.…”

“…2,3,10,11 Two other patients had ToF with facial IHs less than 5 cm in diameter that failed to meet PHACE criteria, although one also had a large regional IH of the trunk and upper extremity, and both had additional arteriopathies. 7,12 Perhaps the incidence of complex congenital heart disease in PHACE is low because a larger portion of the genes involved need to be affected to drastically affect the heart. Alternatively, a second hit may be required to cause a more severe phenotype.…”