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BRIEF COMMUNICATIONS: A. Aeby, R. Guerrini, P. David, G. Rodesch, C. Raybaud, and P. Van Bogaert Facial hemangioma and cerebral corticovascular dysplasia: A syndrome associated with epilepsy Neurology 2003; 60: 1030-1032 [Abstract] [Full text] [PDF]

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Reply to Letter to the Editor

Alec Aeby, Patrick Van Bogaert   (18 June 2003)

Facial hemangioma and cerebral corticovascular dysplasia: A syndrome associated with epilepsy

Denise W Metry, Christopher F Dowd, A James Barkovich and Ilona J Frieden   (18 June 2003)

Reply to Letter to the Editor 18 June 2003
Alec Aeby ULB-Hopital Erasme Brussels Belgium, Patrick Van Bogaert Send Correspondence to journal: Re: Reply to Letter to the Editor alec.aeby{at}ulb.ac.be Alec Aeby, et al.	In commenting on our article on the association of hemangiomas with cerebral vascular dysplasia and cortical dysgenesis [1], Metry et al. report their large experience with the PHACE syndrome. We completely agree with them they state that malformations associated with hemangiomas are not exceptional and represent a large spectrum of anomalies. However, the cases reported in our article cannot be called PHACE syndrome, as the cerebral malformations were exclusively supratentorial, the posterior fossa appearing structurally normal. We pointed out that supratentorial cortical malformations (polymicrogyria and holoprosencephaly), eventually associated with epilepsy, might also occur in association with large facial hemangiomas. This represents a specific syndrome, which probably belongs, together with the PHACE syndrome, to a large spectrum of developmental genetically determined conditions that may be called the "hemangiomas plus syndrome". Another suggestion would be to call this entity the "BEACH syndrome" for large, segmental (h)emangiomas, most commonly of the face associated with one or more of the following anomalies: (b)rain malformation, (e)ye abnormalities, (a)rterial anomalies, (c)oarctation of the aorta and (c)ardiac defect. We believe that new contributions to the wide clinical spectrum of this syndrome will help to better delineate this entity and to bring new insights on its pathophysiology. Reference 1. Aeby A, Guerrini R, David P, et al. Facial hemangioma and cerebral corticovascular dysplasia: A syndrome associated with epilepsy. Neurology 2003;60:1030-1032.
Facial hemangioma and cerebral corticovascular dysplasia: A syndrome associated with epilepsy 18 June 2003
Denise W Metry Texas Children's Hospital Baylor College of Medicine Texas, Christopher F Dowd, A James Barkovich and Ilona J Frieden Send Correspondence to journal: Re: Facial hemangioma and cerebral corticovascular dysplasia: A syndrome associated with epilepsy dmetry{at}bcm.tmc.edu Denise W Metry, et al.	We read with interest the article by Aeby et al., describing two girls with epilepsy, large, facial hemangiomas of infancy, cerebral vascular dysplasia, and supratentorial cortical malformation. [1] The authors note the uncommon nature of this association, citing two previous articles in which large facial hemangiomas occurred along with structural brain and cerebrovascular anomalies. As noted, the association between large facial hemangiomas and underlying cervicocranial arterial anomalies was first recognized by Pascual-Castroviejo in 1978. Subsequently, underlying posterior fossa brain abnormalities, particularly Dandy-Walker type malformations, were also found to be strongly associated. [2] In 1995, Frieden et al noted the association of cardiac, ocular, and ventral developmental anomalies among children with large facial hemangiomas. [3] The acronym PHACE syndrome was coined for this constellation of findings and it is now a well-recognized neurocutaneous syndrome (OMIM 606519). This acronym (sometimes also called PHACES because of ventral developmental defects) refers to the associations of large, segmental (h)emangiomas, most commonly of the face, associated with one or more of the following anomalies: (p)osterior fossa brain malformations, (a)rterial anomalies, (c)oarctation of the aorta and (c)ardiac defects, (e)ye abnormalities and ventral developmental defects including (s)ternal clefting and/or (s)upraumbilical raphe. In 2001, we published 14 new patients with PHACE syndrome and reviewed 116 reported cases.[4] In busy pediatric dermatology practices where we see large numbers of infants with hemangiomas, we see several cases of PHACE syndrome each year, suggesting that while relatively unrecognized in the past, it is not an extremely rare neurocutaneous syndrome. It is important to note that PHACE represents a spectrum of anomalies, as the majority of affected children have only one extracutaneous manifestation of the syndrome, most commonly structural or arterial anomalies of the brain. Although the true incidence is unknown, a potential for secondary neurologic sequelae, most commonly developmental delay, seizures, acute hemiparesis or migraine headaches, exists among patients with underlying brain involvement. An additional risk in such patients is that of progressive neurovascular disease manifesting as aneurysm formation and/or arterial stenosis or occlusion, though the incidence of such complications is also unknown. [4, 5] PHACE has been postulated to occur from a developmental error or insult occurring between the sixth and eighth weeks of gestation. Recent advances in genetics research have pointed to so-called developmental field defects, which result from errors in morphoregulatory genes that then lead to a constellation of anomalies in a spatially related, temporally synchronous manner. PHACE syndrome should be considered in any infant presenting with a large, plaque-like facial hemangioma, and children at risk should undergo careful ophthalmologic and cardiac, in addition to neurologic, evaluation. Long-term outcome data from affected patients are necessary before further diagnostic and therapeutic guidelines can be established. References 1. Aeby A, Guerrini R, David P, et al. Facial hemangioma and cerebral corticovascular dysplasia: A syndrome associated with epilepsy. Neurology 2003;60:1030-1032. 2. Reese V, Frieden IJ, Paller AS, et al. The association of facial hemangiomas with Dandy-Walker and other posterior fossa malformations. J Pediatr 1993;122:379-384. 3. Frieden IJ, Reese V, Cohen D. PHACE syndrome: the association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol 1996;132:307-311. 4. Metry DW, Dowd CF, Barkovich AJ, et al. The many faces of PHACE syndrome. J Pediatr 2001;139:117-123. 5. Burrows PE, Robertson RL, Mulliken JB, et al. Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of 8 patients. Radiology 1998;207:601-607.