Papillon Lefevre Syndrome and footsteps of mycobacterium tuberculosis

Area of Science:

• Genetics
• Infectious Diseases
• Dermatology

Background:

• Papillon-Lefevre Syndrome (PLS) is an extremely rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and periodontitis, leading to premature loss of primary and permanent teeth.
• While primarily known for its dermatological and dental manifestations, rare cases of internal organ involvement, such as liver abscesses, have been documented.
• Genetic confirmation of PLS is crucial for accurate diagnosis and understanding disease mechanisms.

Observation:

• This study reports the first genetically documented case of Papillon-Lefevre Syndrome.
• The patient presented with characteristic cutaneous and dental findings of PLS.
• Unusually, the case also exhibited evidence of Mycobacterium tuberculosis infection within the liver and kidney tissues.

Findings:

• Genetic analysis confirmed the diagnosis of Papillon-Lefevre Syndrome.
• Histopathological examination revealed the presence of Mycobacterium tuberculosis in liver and kidney biopsies.
• This represents a novel association between genetically confirmed PLS and tuberculosis in internal organs.

Implications:

• This finding expands the spectrum of known complications associated with Papillon-Lefevre Syndrome.
• Highlights the importance of considering infectious etiologies, particularly tuberculosis, in PLS patients with visceral involvement.
• Suggests potential interactions between genetic predisposition in PLS and susceptibility to mycobacterial infections.