Papillon-Lefèvre syndrome treated with acitretin

A 7-year-old boy born to consanguineous parents had suffered from palmoplantar keratoderma and chronic gingivitis since the age of 3 months. He was diagnosed with Papillon-Lefèvre syndrome. Genetic testing confirmed that he was homozygous with a point mutation in exon 6 of the cathepsin C gene. One year after initiating treatment with acitretin 10 mg oral daily and trimethoprim-sulfamethoxazole, the patient's skin remains almost lesion-free, and he has new teeth that erupted during treatment and are free of periodontal disease.     

Papillon-Lefèvre综合征1例

患者男,12岁。双手、双足、双肘和双膝部皮肤弥漫性角化10年。皮肤科情况:双手、双足、双肘和双膝部皮肤红斑角化,伴有鳞屑。自幼牙龈红肿化脓,恒牙萌出时牙周组织出现破坏,牙龈红肿,牙排列不齐。左手背部皮损组织病理示:表皮银屑病样增生,真皮浅层水肿,少许慢性炎细胞浸润。诊断:Papil-lon-Lefèvre综合征。     

Papillon-Lefèvre syndrome with pyogenic hepatic abscess: a rare association

Papillon-Lefèvre syndrome in a 14-year-old boy presenting with palmoplantar keratoderma, periodontosis, recurrent pyogenic infections of the skin, and hepatic abscesses is reported for its rarity and unusual manifestations. The patient showed a dramatic response to acitretin therapy.     

Papillon-Lefèvre Syndrome:A Case Report

Introduction:Papillon-Lefèvre syndrome(PLS)is an autosomal recessive disorder characterized by a diffuse palmoplantar hyperkeratosis and early periodontal destr...     

Phenotypic variation and allelic heterogeneity in young patients with Papillon-Lefèvre syndrome

Papillon-Lefèvre syndrome is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressive periodontitis. The aim of the study was to identify underlying cathepsin C mutations in 39 subjects with Papillon-Lefèvre syndrome and to explore any phenotypic associations. Genotyping and mutation analyses were performed using standard molecular techniques, and dermatological and oral characteristics were assessed with a semiquantitative clinical score. Three genotypes were present at microsatellite marker D11S1780 and two underlying mutations were identified. The most common genotype (183/183) was associated with an 815G --> C mutation in exon 6 resulting in an arginine to proline change at amino acid 272 (R272P). Patients with the 173/173 genotype revealed an exon 7 G300D mutation resulting in a glycine to aspartic acid change at amino acid 300. The mutation in a family with 189/189 genotype remained unknown. A significant difference in hyperkeratosis of the feet was found between the patients with mutations G300D and R272P ( p < 0.05), but not regarding hands or periodontal condition. Young girls displayed significantly less palmoplantar hyperkeratosis ( p < 0.05) than young boys. In conclusion, considerable phenotypic heterogeneity was observed within the two cardinal mutations and in the 189/189 genotype.     

Papillon-Lefèvre综合征伴沟纹舌1例

报告1例Papillon-Lefèvre综合征伴沟纹舌。患者男,23岁。自幼牙龈化脓,近4年来掌跖部弥漫性角化,并伴有沟纹舌。临床诊断为Papillon-Lefèvre综合征。给予阿维A治疗后皮损得到控制。     

A new family with Papillon-Lefèvre syndrome: effectiveness of etretinate treatment

Papillon-Lefèvre syndrome is characterized by the association of palmoplantar hyperkeratosis, severe periodontitis, and early loss of deciduous and permanent teeth. We report two patients from the same family, aged 21 and 30 years, who were unaware of their pathology; one was successfully treated with etretinate.     

Papillon-Lefévre综合征

Papillon-Lefévre 综合征(PLS)为法国学者 Papillon 和 Lefévre 于1924年首先描述,至今世界文献共报告100余例,分散于世界各地,其发病率在一般人群中估计为1～4/百万。近些年来,对这一遗传性综合征有了一些新的认识,特别是在治疗方面,取得了可喜的进展。临床表现PLS 又称掌跖角化伴发牙周病综合征,典型的临床特征一般都在3岁前开始出现,无性别和种族差异。主要有以下两个方面的表现:①皮肤:皮肤病变往往先于口腔病变     

Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefèvre syndrome

Papillon-Lefèvre syndrome is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early development of aggressive periodontal infection. The aims of this study were to rank the severity of dermatologic and oral affections using a semiquantitative scoring system, and to evaluate whether the severity of the dermatologic changes were correlated to age, degree of periodontal infection, or both. The study included 47 patients with Papillon-Lefèvre syndrome. With no exception both skin and oral changes developed early in life. The dermatologic involvement showed no correlation with age, whereas the periodontal infection was significantly worse in young children with deciduous teeth. A strong correlation was found between the condition of feet and hands, although the scores for the feet were significantly higher. No significant correlation could be demonstrated between the level of periodontal infection and severity of skin affections, supporting the concept that these 2 major components of Papillon-Lefèvre syndrome are unrelated to each other.     

Papillon-Lefèvre syndrome: case report and review of the literature

A 15-year-old boy presented with symmetric, well-demarcated, yellowish, keratotic plaques over the skin of his palms and soles extending onto the dorsal surfaces. Well-circumscribed, psoriasiform, erythematous, scaly plaques were also present on the elbows and knees bilaterally along with dystrophy an transverse grooving of the nails. He also had swollen and friable gums since the age of 3 with subsequent loss of most of his permanent dentition. These findings are consistent with Papillon-Lefèvre syndrome. The clinical presentation, differential diagnosis, complications and management of this syndrome are discussed.     

Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene

The Papillon-Lefèvre syndrome, inherited in an autosomal recessive pattern, manifests with palmoplantar keratoderma and early, destructive periodontitis. Recently, mutations in the gene encoding cathepsin C have been disclosed in a limited number of families with Papillon-Lefèvre syndrome. We have examined two multiplex families with Papillon-Lefèvre syndrome, and evaluated the gene encoding cathepsin C for mutations. The mutation detection strategy consisted of polymerase chain reaction amplification of all seven exons and flanking intronic sequences, followed by direct nucleotide sequencing. This strategy identified two missense mutations, W39S and G301S, affecting highly conserved amino acid residues within the cathepsin C polypeptide. The affected individuals were homozygotes whereas heterozygous carriers of the mutations were clinically unaffected, confirming the recessive nature of the mutations. Addition of these cathepsin C gene mutations into the expanding Papillon-Lefèvre syndrome mutation database allows further development of genotype/phenotype correlations towards understanding this severe genodermatosis.     

A novel seven-base deletion of the CTSC gene identified in a Hungarian family with Papillon-Lefèvre syndrome

Papillon-Lefévre syndrome (PLS; OMIM 245000) is a rare autosomal recessive condition characterized by symmetrical palmoplantar hyperkeratosis and periodontal inflammation, causing loss of both the deciduous and permanent teeth. PLS develops due to mutations in the cathepsin C gene, CTSC. Recently we have identified a Hungarian PLS family with two affected siblings. Direct sequencing of the coding regions of the CTSC gene revealed a novel seven-base deletion leading to frameshift and early stop codon in the fourth exon of the CTSC gene (c.681delCATACAT, p.T188fsX199). The affected family members carried the mutation in homozygous form, while the clinically unaffected family members carried the mutation in heterozygous form. The unrelated controls carried only the wild type sequence. In this paper we report a novel homozygous deletion of seven bases on the CTSC gene leading to the development of PLS. Since consanguineous marriage was unknown in the investigated family, the presence of the homozygous seven-base deletion of the CTSC gene may suggest that the parents are close relatives.     

Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome

The Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder. The gene responsible for the disease, cathepsin C (CTSC), is localized in 11q14.1-q14.21. We performed mutational and functional analyses of CTSC in two patients affected by this condition. Three previously unreported CTSC mutations were identified. The first patient had a compound heterozygous status with a p.G386R missense mutation and an intragenic deletion spanning exons 3-7. Second patient carried a homozygous splice site mutation, p.A253SfsX30. CTSC activity was undetectable in both patients, thus demonstrating the pathological effect of these mutations. We describe early evidence of an original intragenic deletion reported in PLS. Since this mutational mechanism could not be detected by direct sequencing, intragenic deletion has to be specifically investigated using gene dosage analysis techniques such as quantitative multiplex fluorescent polymerase chain reaction. We consider that this technique should be performed in patients with apparently homozygous CTSC mutations when one parent does not carry the expected mutation or is not available for analysis.     

Papillon-Lefévre syndrome: the response to acitretin

Papillon-Lefévre syndrome is a rare autosomal recessive disease comprising palmoplantar keratoderma and periodontitis. Palmoplantar keratoderma can be severe, necessitating systemic treatment. Different systemic retinoids were found to be highly efficacious. We describe the successful use of acitretin in one patient who had severe palmoplantar keratoderma, with maintenance of the improvement using topical treatment.