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[Papillon-Lefèvre syndrome: A new case].
S Martinho1, T Levade2, P Fergelot3
1Unité d'immunohématologie et oncologie pédiatrique, hôpital Nord, CHU de Saint-Étienne, avenue Albert-Raymond, 42055 Saint-Étienne, France.
Summary
Papillon-Lefèvre syndrome (PLS), a rare immunodeficiency, causes severe gum disease and skin issues due to cathepsin C gene mutations. Early diagnosis and multidisciplinary care are crucial for managing this condition.
Area of Science:
- Genetics
- Immunology
- Dermatology
Background:
- Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive primary immunodeficiency.
- It is characterized by severe periodontitis, edentulism, and palmoplantar keratosis (PPK).
- Mutations in the cathepsin C gene are the underlying cause of PLS, affecting neutrophil function.
Observation:
- A case of a 4-year-old girl with delayed diagnosis of PLS is presented.
- The patient exhibited symptoms including gingivitis, partial edentulism, and PPK.
- Diagnosis was suspected due to absent cathepsin C activity.
Findings:
- Genetic analysis confirmed heterozygous mutations in the cathepsin C gene (c.628C>T, pArg210* and c.1286G>A, p.Trp429*).
- Altered neutrophil biological properties contribute to gingival dysbiosis, bacterial overgrowth, and severe periodontitis.
- The study highlights the clinical presentation and genetic basis of this rare syndrome.
Implications:
- Early and accurate diagnosis of PLS is essential for timely intervention.
- A multidisciplinary approach is vital for improving patient outcomes, including functional, esthetic, and psychological aspects.
- This case report contributes to understanding the phenotype of this poorly recognized condition.
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