CANDLE Syndrome: orodfacial manifestations and dental implications

Area of Science:

• Pediatric Dentistry
• Medical Genetics
• Rare Diseases

Background:

• CANDLE Syndrome (Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Body Temperature) is a rare autoinflammatory disorder.
• It presents with diverse clinical features including short stature, lipodystrophy, skin eruptions, and hepatosplenomegaly.

Observation:

• A South African girl with CANDLE Syndrome exhibited previously undescribed orodental manifestations: generalized microdontia and jaw osteopenia.
• Intellectual impairment complicated dental interventions, necessitating conservative management of caries and poor oral hygiene.
• Prophylactic antibiotics and minimal invasive procedures were employed.

Findings:

• Conservative dental treatment under local anesthesia, with prophylactic antibiotics, led to significant improvement in the patient's oral health.
• Regular six-monthly follow-ups were crucial for monitoring and maintaining oral hygiene.
• Generalized microdontia and osteopenia of the jaws were identified as novel syndromic components.

Implications:

• Accurate diagnosis and understanding of orodental manifestations in CANDLE Syndrome are vital for appropriate dental management.
• Early recognition of these oral changes can aid in the comprehensive care of patients with this potentially lethal condition.
• This case highlights the importance of considering dental aspects in rare genetic disorders, which are often overshadowed by systemic features.