[Incomplete expression of PHACE (S) syndrome: facial hemangioma associated with absence of the internal carotid artery].
BACKGROUND
Hemangiomas are the most common benign tumors in childhood. In rare cases, they can be associated with dysmorphic malformations. The acronym, the PHACE (S) syndrome, was recently described by Frieden et al. in 1996 as a large facial or cervical Hemangioma, associated with one or more of the following systemic abnormalities including:Posterior fossa malformation, Arterial abnormalities, Coarctation of the aorta and/or cardiac defects, Eye abnormalities and Sternal clefts.


METHODS
A 2 year-old girl presented with a large left hemifacial hemangioma. The rest of the clinical examination was normal. Initially, simple clinical surveillance was scheduled. The outcome was good with almost complete regression of the hemangioma by the age of 8. However, there were remains to the left of the upper lip and plastic surgery was scheduled. Pre-operative conventional arteriography revealed the complete, asymptomatic, absence of the ipsilateral internal carotid artery. Cerebral MRI and cardiac ultrasonography were normal. In the absence of somatic manifestations, regular clinical surveillance was decided on.


CONCLUSIONS
Large facial or cervical hemagiomas can be associated with one or more systemic abnormalities described by the PHACE (S) acronym. Its prevalence is unknown, but is shows marked female preponderance. Among the systemic abnormalities, neurological and cardiac malformations predominate. Hence the PHACE (S) syndrome must be recognized. Moreover, in patients presenting with large facial or cervical hemangioma, the following examinations should be performed: neurological examination and cerebral MRI to rule out abnormality of the posterior fossa, completed by a sequence of angio-MRI in the search for cerebral artery malformations; cardiovascular exploration, completed by echocardiography in the case of doubt and examination of the eyes and sternum. Lastly, the enhanced risk of laryngeal sub-glottis hemangioma should be kept in mind.
Monnier
D
D
Service de Dermatologie, CHU Saint-Jacques, Besançon.
Pelletier
F
F
Aubin
F
F
Puzenat
E
E
Moulin
T
T
Humbert
P
P
D000015:Abnormalities, Multiple; D002343:Carotid Artery, Internal / Q000002:abnormalities*; D002675:Child, Preschool; D015897:Comorbidity; D005260:Female; D007839:Functional Laterality; D006391:Hemangioma / Q000150:complications / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D012878:Skin Neoplasms / Q000150:complications / Q000473:pathology*