Papillon-Lefèvre Syndrome: A Case Report

Abstract

Introduction: Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterized by a diffuse palmoplantar hyperkeratosis and early periodontal destruction. Only a few PLS cases are reported by dermatological clinicians due to its rarity.Here, we reported a 16-year-old Chinese boy presented with diffuse transgradient palmoplantar hyperkeratosis since 4 years of age.Case presentation: The patient had also experienced recurrent episodes of swollen gums with premature loss of teeth. He is treated with multidisciplinary approaches. On follow-up, he continued to have recurrent gingival inflammation.Discussion: The etiopathogenesis of PLS is obscure and its management presents a special challenge, which call for in-depth studies that will reveal the complex interactions of genetic, immunologic, and microbiological factors involved in pathogenesis of PLS. Conclusion:PLS is a very rare genodermatosis with characterized palmoplantar hyperkeratosis. Dermatological clinicians should be aware of this rare clinical entity to promote its early diagnosis.

Diagnosis and Management of Papillon-Lefevre Syndrome: A Rare Case Report and a Brief Review of Literature

“…In homozygous PLS patients with cathepsin C gene mutations, loss of function has been identified [ 4 ]. This gene is abundantly expressed in immune defence cells and epithelial tissues, particularly in gingiva and the ventral skin surfaces of hands as well as feet [ 5 ]. Toomes et al believed PLS had a strong genetic basis and their research has shown that patients with PLS exhibited amorphic mutations that affected the alleles of the cathepsin C gene, a lysosomal protease [ 6 ].…”

“…Toomes et al believed PLS had a strong genetic basis and their research has shown that patients with PLS exhibited amorphic mutations that affected the alleles of the cathepsin C gene, a lysosomal protease [ 6 ]. Cathelicidin antimicrobial peptide LL-37, which was found diminished in the gingival crevicular fluid and neutrophils of PLS patients, is produced by proteinase 3 and is essential for the production of cathepsin C [ 5 ].…”

“…Patients with PLS may also have impaired neutrophil, lymphocyte, or monocyte function, increasing their vulnerability to bacterial infections and their risk of developing recurring pyogenic illnesses including pyoderma, furunculosis, pneumonia, and hepatic abscesses [ 4 ]. The development of periodontal pathogenic microorganisms may be explained by the reduced cytotoxic lymphocyte function seen in PLS patients [ 5 ]. Almuneef et al conducted observations and concluded that pyogenic liver abscess can be recognised as a complication due to PLS as a result of compromised immune system function [ 7 ].…”

“…Early identification of PLS and a multidisciplinary approach can effectively improve patient prognosis. Systemic antibiotics are effective in reducing active periodontitis, while oral prophylactic measures can enhance the quality of life [ 5 ]. In a case report, Pacheco et al concluded that scaling, root planing along with systemic drug therapy of amoxicillin-metronidazole effectively halts the progression of periodontal disease in individuals with PLS.…”

The Power of Molecular Genetics in Understanding Heritable Skin Disorders: Introduction to the Special Theme on Genodermatosis

“…Specifically, the genetic mutations linked to this disorder may explain the immune perturbations and provide novel information useful for identification of therapeutic targets. Finally, a case report by Zhao et al 6 highlights the clinical and histopathological features of a young patient with Papillon-Lefèvre syndrome, a rare autosomal recessive disorder. The authors also reported improvement of skin lesions following treatment with oral retinoids and antibiotics.…”