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Papillon-Lefevre syndrome with pseudoainhum.
P Ashwani1, K Swapna, Sailaja M Rani
1Deparment of Dermatology, Venereology and Leprology, Mamata Medical College and General Hospital, Khammam, India.
Indian Dermatology Online Journal
|November 7, 2012
Summary
Papillon-Lefevre syndrome, a rare genetic disorder, presents with palmoplantar keratoderma and periodontitis. This case highlights successful management of skin and periodontal symptoms using topical treatments, oral retinoids, antibiotics, and oral hygiene.
Area of Science:
- Dermatology
- Genetics
- Periodontology
Background:
- Papillon-Lefevre syndrome is an autosomal recessive disorder characterized by severe palmoplantar hyperkeratosis and aggressive periodontitis.
- The syndrome results from mutations in the CTSG gene, affecting neutrophil function and immune response.
- Early diagnosis and multidisciplinary management are crucial for mitigating disease progression.
Observation:
- A 25-year-old female presented with diffuse palmoplantar keratoderma, periodontitis, and pseudoainhum of the toes.
- The patient exhibited significant skin lesions and advanced periodontal destruction.
- The case was documented for academic and clinical interest.
Findings:
- Topical keratolytics and oral acitretin led to notable improvement in the patient's palmoplantar keratoderma.
- Systemic antibiotics and rigorous oral hygiene measures significantly ameliorated periodontal disease.
- The patient is currently undergoing comprehensive oral rehabilitation, including orthodontic surgical procedures.
Implications:
- This case underscores the efficacy of a combined therapeutic approach for managing Papillon-Lefevre syndrome.
- Effective control of periodontal disease is essential to prevent tooth loss and systemic complications.
- Multidisciplinary care involving dermatology, periodontology, and orthodontics is vital for optimizing patient outcomes.
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