Partial expression of the Papillon-Lefevre syndrome.

Area of Science:

• Genetics and Dermatology
• Oral Medicine and Periodontology

Background:

• Papillon-Lefevre Syndrome (PLS) is a rare autosomal recessive disorder.
• It is characterized by severe palmar-plantar hyperkeratosis and aggressive periodontitis.
• PLS affects approximately 1-4 individuals per million.

Observation:

• This report describes a unique case of a 28-year-old woman diagnosed with Papillon-Lefevre Syndrome.
• The patient presented with the pathognomonic dermatological features of PLS.
• Notably, the patient lacked the typical destructive periodontitis associated with the syndrome.

Findings:

• The case highlights a variant presentation of Papillon-Lefevre Syndrome.
• This suggests that the classic hallmarks of PLS may not always co-occur.
• The dermatological manifestations of PLS can be present without the oral pathology.

Implications:

• This atypical presentation expands the understanding of Papillon-Lefevre Syndrome's clinical spectrum.
• It underscores the importance of considering genetic diagnoses even with incomplete classic features.
• Further research may elucidate the genetic or environmental factors influencing phenotypic variability in PLS.