Papillon-Lefevre syndrome (PLS) manifests as an autosomal recessive disorder caused by a mutation in the cathepsin C (CTSC) gene. This genetic alteration results in palmoplantar hyperkeratosis, rapid onset of periodontitis, and premature shedding of both primary and permanent teeth. The major etiological factor responsible for the development of this disorder appears to be variations in the CTSC gene, which is responsible for the production of the cathepsin C enzyme in the body. The multifactorial aetiology of the syndrome is influenced by immunologic, genetic, or microbial factors. This case report presents a clinical picture of a 21-year-old Indian male patient with oligodontia and mobile teeth accompanied by palmoplantar keratosis and a history of recurrent infection. The detailed family history of the patient revealed genetic relevance with PLS. This article will discuss in detail the diagnosis, evaluation and treatment modalities involved in the management of the case.

BACKGROUND: Palmar-plantar hyperkeratosis and severe early-onset periodontitis are the hallmarks of the uncommon autosomal recessive Papillon-Lefévre syndrome (PLS), which may cause both primary and permanent teeth to be lost at an early age. The cause and pathophysiology of the disorder involve several factors, including genetic, immunological, and microbial factors.
OBJECTIVE: The purpose of this case study is to provide insight into the fascinating role of consanguinity in the aetiology of this unusual illness.
METHODS: An unusual PLS case report in a household with two consanguineously married parents was provided. A 17-year-old Saudi boy visited the dental clinic at Riyadh Elm University because he was having problems with loose teeth and pain while chewing, as well as irritated and friable gums. He may be suffering from a genetic condition that has been effectively treated in the past by his elder brother, who is now 26 years old. In this instance, severe extensive periodontitis contributed to the early loss of primary teeth as well as permanent teeth, resulting in PLS. On the lateral surface of the soles, the distinctive skin lesions revealed hyperkeratosis with regions of persistent thickening, flaking, and scaling. There were erythematous patches on the palms, but no hyperkeratosis was seen.
CONCLUSIONS: When it comes to Papillon-Lefévre syndrome (PLS), this is an extremely unusual instance since two siblings in the same family were both afflicted. Patients who are stigmatised because of their condition will benefit from early discovery and multidisciplinary treatment.

Papillon-Lefevre syndrome (PLS) (OMIM: 245000) is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early onset periodontitis, resulting in the premature loss of the deciduous and permanent teeth. PLS is caused by mutations in the cathepsin C (CTSC) gene (OMIM: 602365), which has been mapped to chromosome 11q14-q21. Genetic analysis can help early and rapid diagnosis of PLS. Here we report on a Chinese PLS pedigree with two affected siblings. We have identified two novel compound heterozygous mutations c.763T>C (p.C255R) and c.1015C>A (p.R339S) in the CTSC gene. The two mutations expand the spectrum of CTSC mutations in PLS.

Haim-Munk syndrome (HMS) and Papillon-Lefevre syndrome (PLS) are phenotypic variants of palmoplantar keratoderma (PPK) with progressive early-onset periodontitis and dental caries. HMS and PLS have been associated with homozygous or compound heterozygous mutations in the lysosomal protease gene Cathepsin C (CTSC). There have been only a few documented cases of CTSC mutations in patients from South-East Asia. We report the clinical findings of two Cambodian brothers who presented with diffuse, demarcated PPK with transgrediens extending to the elbows and knees, as well as pachyonychia and dental caries. Arachnodactyly and periodontitis were also found in the older brother. Next-generation sequencing unveiled a homozygous missense variant in CTSC (NM_001814.5: c.1337AC: p.(Asp446Ala)) in both brothers. Both parents were heterozygous for the variant, while an unaffected older brother was homozygous for the wild-type allele. Our study adds to the spectrum of mutations and associated clinical presentations for this rare genodermatosis.

暂无摘要。

Papillon-lefevre syndrome (PLS) belongs to a heterogeneous group of skin diseases that are characterized by hyperkeratosis of palms and soles. It is a type IV palmoplantar keratosis (PPK) while the palmoplantar keratodermas share some features of PPK, they are etiologically heterogeneous. PLS differs from other types of PPK by the presence of severe and early onset periodontitis. Genetic studies have shown that mutation in the major gene locus of chromosome 11q14 with the loss of function of cathepsin-C (CTSC) gene is responsible for PLS. CTSC gene mutations are causative for PLS. The resultant loss of CTSC function is responsible for the severe periodontal destruction seen clinically. This report represents two siblings with classical signs and symptoms of PLS.

An interesting episode of Papillon-Lefevre syndrome in a 25-year-old female with diffuse palmoplantar keratoderma, periodontitis and pseudoainhum of the toes is reported for academic interest. Her skin lesions improved with topical keratolytics and oral retinoid (acitretin) whereas periodontic problems showed significant improvement with systemic antibiotics and proper implementation of oral hygienic measures. She is undergoing oral rehabilitation with orthodontic surgical procedures.

Papillon-Lefevre syndrome is a rare (1-4 cases per million) autosomal recessive disorder showing predominantly oral and dermatological manifestations in the form of aggressive periodontitis affecting both primary and permanent dentition and palmoplantar hyperkeratosis. Genetic studies have shown that mutations in the major gene locus of chromosome 11q14 with loss of function of cathepsin C gene are responsible for Papillon-Lefevre syndrome. This report presents two siblings with classic signs and symptoms of Papillon-Lefevre syndrome. The exact cause for periodontal destruction in patients with Papillon-Lefevre syndrome is not known but it is thought to be due to defect in neutrophil function, immune suppression and mutations in cathepsin C gene.