Non-syndromic recurrent multiple odontogenic keratocysts: a case report

Area of Science:

• Oral pathology
• Genetics
• Dermatology

Background:

• Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare genetic disorder.
• It is characterized by a predisposition to various tumors and developmental abnormalities.
• Odontogenic keratocysts (OKCs) are a hallmark feature of NBCCS, often presenting as multiple cysts.

Observation:

• The patient presented with multiple recurrent odontogenic keratocysts (OKCs) over an 11-year period.
• Nine distinct cysts were documented, all requiring surgical intervention due to recurrence.
• Crucially, the patient exhibited no other clinical manifestations typically associated with NBCCS.

Findings:

• This case suggests that mutations in the PTCH gene, associated with NBCCS, can lead to isolated OKC development.
• Partial expression of the PTCH gene may manifest solely as multiple, recurring OKCs.
• The absence of other NBCCS features in this patient challenges the typical diagnostic criteria.

Implications:

• This case broadens the understanding of PTCH gene mutation expressivity.
• It highlights the importance of considering isolated recurrent OKCs in the differential diagnosis of NBCCS spectrum disorders.
• Further research is needed to elucidate the genetic mechanisms underlying isolated OKC presentation.