Localized attachment loss in Pendred syndrome: incidental?

Area of Science:

• Endocrinology
• Genetics
• Oral Medicine

Background:

• Pendred syndrome is a rare autosomal recessive disorder characterized by impaired thyroxine production due to an iodine organification defect.
• Clinical features typically include congenital sensorineural hearing loss and goiter.

Observation:

• This report details the first documented case of Pendred syndrome in dental literature.
• Oral findings included extensive localized attachment loss of mandibular incisors, idiopathic hypercementosis, and hypothyroidism-like macroglossia and macrocheilia.

Findings:

• Elevated serum alkaline phosphatase, inorganic calcium, and phosphate levels were observed.
• Peripheral neutrophil function tests indicated defective neutrophil function.

Implications:

• This case underscores the importance of comprehensive medical histories and systemic evaluations in identifying rare genetic disorders with oral manifestations.
• Dentists should be aware of potential systemic links in patients presenting with unusual oral conditions.