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Tooth enamel hypoplasia in PHACE syndrome. Pediatr Dermatol 2014 Jul-Aug;31(4):455-8 PMID: 24916277

Pubmed ID





Individuals with PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, sternal cleft, and supraumbilical raphe syndrome) have reported dental abnormalities to their healthcare providers and in online forums, but dental involvement has not been comprehensively studied. A study was conducted at the third PHACE Family Conference, held in Milwaukee, Wisconsin, in July 2012. A pediatric dentist examined subjects at enrollment. Eighteen subjects were enrolled. The median age was 4.2 years (range 9 mos-9 yrs; 14 girls, 4 boys). Eleven of 18 patients had intraoral hemangiomas and five of these (50%) had hypomature enamel hypoplasia. None of the seven patients without intraoral hemangiomas had enamel hypoplasia. No other dental abnormalities were seen. Enamel hypoplasia may be a feature of PHACE syndrome when an intraoral hemangioma is present. Enamel hypoplasia increases the risk of caries, and clinicians should refer children with PHACE syndrome to a pediatric dentist by 1 year of age.

Author List

Chiu YE, Siegel DH, Drolet BA, Hodgson BD


Yvonne E. Chiu MD Associate Professor in the Dermatology department at Medical College of Wisconsin
Brian Hodgson DDS Assistant Professor in the Developmental Sciences-Dental School department at Marquette University
Dawn Siegel MD Associate Professor in the Dermatology department at Medical College of Wisconsin


2-s2.0-84904573644   5 Citations

MESH terms used to index this publication - Major topics in bold

Aortic Coarctation
Child, Preschool
Dental Enamel Hypoplasia
Eye Abnormalities
Neurocutaneous Syndromes
jenkins-FCD Prod-332 f92a19b0ec5e8e1eff783fac390ec127e367c2b5