Dental root abnormalities in four children with PHACE syndrome

Area of Science:

• Pediatric Dentistry
• Medical Genetics
• Developmental Biology

Background:

• PHACE(S) syndrome is a rare multisystem disorder.
• It involves posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, sternal cleft, and supraumbilical raphe.
• Dental anomalies are not a commonly recognized feature of PHACE(S) syndrome.

Observation:

• Four children diagnosed with PHACE(S) syndrome presented with dental abnormalities.
• These abnormalities included the absence or severe malformation of permanent first molar (PFM) roots.
• The root malformations were bilateral and occurred independently of cutaneous hemangioma location.

Findings:

• The observed PFM root abnormalities in children with PHACE(S) syndrome are likely a novel dental manifestation of the condition.
• These dental findings are rare in the general pediatric population, suggesting a syndromic origin.
• The etiology of these root abnormalities remains unknown but is hypothesized to be linked to the underlying genetic or developmental pathways of PHACE(S) syndrome.

Implications:

• Absence or malformation of PFM roots can lead to significant long-term dental consequences, including tooth loss and functional impairment.
• A panoramic dental radiograph during transitional dentition is recommended for early detection of these root abnormalities in children with PHACE(S) syndrome.
• This screening can facilitate timely intervention and management to mitigate potential oral health complications.