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PHACES syndrome and multi-regional odontodysplasia: a case report
Jean Marie Star1, Richard C Jordan2, Ray E Stewart1
1Department of Orofacial Sciences, University of California San Francisco, San Francisco, CA 94143, USA.
Insights
This case report details a rare instance of PHACES syndrome (Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of aorta/cardiac defects, Eye abnormalities, Sternal malformations) co-occurring with multi-regional odontodysplasia in a young child.
Area of Science:
- Medical Genetics
- Pediatric Dentistry
- Developmental Biology
Background:
- PHACES syndrome is a rare multisystem disorder characterized by specific congenital anomalies.
- Infantile hemangiomas and regional odontodysplasia (ghost teeth) are distinct developmental conditions.
- The co-occurrence of PHACES syndrome and odontodysplasia is exceptionally uncommon.
Purpose of the Study:
- To report a rare case of PHACES syndrome with coexisting multi-regional odontodysplasia.
- To highlight the dental management challenges in such complex cases.
- To emphasize the need for interdisciplinary care in syndromic patients.
Main Methods:
- Case presentation of a two-year-old male diagnosed with PHACES syndrome.
- Clinical and radiographic evaluation of dental anomalies.
- Surgical extraction of severely affected primary teeth under general anesthesia.
Main Results:
- The patient presented with PHACES syndrome and ten dysplastic teeth (50% of dentition).
- Affected primary teeth exhibited sensitivity, abscess formation, and poor long-term prognosis.
- Extraction of all affected primary teeth was performed.
Conclusions:
- This case underscores the rare association between PHACES syndrome and extensive odontodysplasia.
- Early diagnosis and intervention are crucial for managing dental complications in syndromic patients.
- A multidisciplinary approach is essential for long-term dental care and development in children with complex congenital conditions.
Abstract:
PHACES syndrome is an acronym for the syndromic presentation of Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of aorta/cardiac defects, Eye abnormalities and Sternal malformations. Infantile hemangiomas are the most common tumors of infancy. Regional odontodysplasia, commonly referred to as "ghost teeth", is a rare localized developmental malformation of enamel and dentin with varying levels of severity that results in unusual clinical and radiographic appearances of affected teeth. This report describes a rare case of a two-year-old Caucasian male diagnosed with PHACES syndrome also presenting with multi-regional odontodysplasia. Ten of twenty teeth were dysplastic. The patient was treated under general anesthesia in a hospital setting. All affected primary teeth were extracted due to sensitivity, abscess and extremely poor long-term prognosis. Moving forward, a long-term interdisciplinary approach will be necessary to address this child's dentition as it develops.
