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Papillon–Lefèvre syndrome

M Batinica, A Stephan, J Steiger, I Tantcheva-Poόr, S A Eming, M Fabri
Neutrophils eject neutrophil extracellular traps (NETs), complexes of DNA and proteins [1]. As NETs contain antimicrobial proteins, they have been implicated in host defence [1, 2]. Moreover, NETs trigger inflammation [2, 3]. Reactive oxygen species (ROS)-dependent (e.g. by phorbol myristate acetate (PMA)) and ROS-independent (e.g. by calcium ionophore (CaI)) inducers of NETosis have been described [2]. This article is protected by copyright. All rights reserved.
October 12, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Zyad M AIBarrak, Adel S Alqarni, Elna P Chalisserry, Sukumaran Anil
BACKGROUND: Papillon-Lefèvre syndrome is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressively progressing periodontitis leading to premature loss of deciduous and permanent dentition. The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible bacterial etiologies have been proposed. CASE PRESENTATION: A series of five cases of Papillon-Lefèvre syndrome among the siblings in a family is presented here: a 3-year-old Arab girl, a 4-year-old Arab boy, a 11-year-old Arab boy, a 12-year-old Arab boy, and a 14-year-old Arab boy...
2016: Journal of Medical Case Reports
Yaser Mohammad Alkhiary, Musharraf Jelani, Mona Mohammad Almramhi, Hussein Sheikh Ali Mohamoud, Rayan Al-Rehaili, Hams Saeed Al-Zahrani, Rehab Serafi, Huanming Yang, Jumana Yousuf Al-Aama
Papillon-Lefevre syndrome (PALS) is a rare, autosomal recessive disorder characterized by periodontitis and hyperkeratosis over the palms and soles. Mutations in the cathepsin C gene (CTSC) have been recognized as the cause of PALS since the late 1990s. More than 75 mutations in CTSC have been identified, and phenotypic variability between different mutations has been described. Next generation sequencing is widely used for efficient molecular diagnostics in various clinical practices. Here we investigated a large consanguineous Saudi family with four affected and four unaffected individuals...
September 2016: Saudi Journal of Biological Sciences
Y Yang, L H Ge
No abstract text is available yet for this article.
June 2016: Zhonghua Kou Qiang Yi Xue za Zhi, Zhonghua Kouqiang Yixue Zazhi, Chinese Journal of Stomatology
Behdad Navabi, Julia Elizabeth Mainwaring Upton
BACKGROUND: Eosinophilia is not an uncommon clinical finding. However, diagnosis of its cause can be a dilemma once common culprits, namely infection, allergy and reactive causes are excluded. Primary immunodeficiency disorders (PID) are among known differentials of eosinophilia. However, the list of PIDs typically reported with eosinophilia is small and the literature lacks an inclusive list of PIDs which have been reported with eosinophilia. This motivated us to review the literature for all PIDs which have been described to have elevated eosinophils as this may contribute to an earlier diagnosis of PID and further the understanding of eosinophilia...
2016: Allergy, Asthma, and Clinical Immunology
Burak Tekin, Deniz Yucelten, Filippo Beleggia, Ofer Sarig, Eli Sprecher
Papillon-Lefèvre syndrome is an autosomal recessive genodermatosis typically manifesting with the constellation of palmoplantar keratoderma and progressive early-onset periodontitis. The cutaneous phenotype can be strikingly psoriasiform, possibly posing a diagnostic challenge. This rare disorder is caused by loss-of-function mutations in the CTSC gene, which encodes cathepsin C. We report six patients with Papillon-Lefèvre syndrome from five consanguineous Turkish families, in whom genetic analysis of the CTSC gene revealed four recurrent mutations (c...
August 2016: International Journal of Dermatology
Cuixian Liu, Zhihui Tian, Qi Yang, Qianqian Ma, Xiangmin Xu, Fu Xiong
OBJECTIVE: To analyze the clinical phenotype of a Chinese pedigree affected with Papillon-Lefevre syndrome(PLS) and detect mutation of CTSC gene. METHODS: Clinical phenotypes were noted, and oral examination for the proband was carried out for the clinical diagnosis of PLS. PCR and Sanger sequencing were used to identify potential mutation of the CTSC gene. Functional effect of the mutation was predicted with SIFT and PolyPhen-2. Swiss-Port was used to predict the tertiary structure of wild type and mutant proteins...
April 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Somia Iqtadar, Sami Ullah Mumtaz, Sajid Abaidullah
INTRODUCTION: Papillon-Lefèvre Syndrome is a rare autosomal recessive disorder characterized by diffuse, transgradient palmoplantar keratoderma, destructive periodontitis beginning in childhood, premature loss of primary teeth, and frequent cutaneous and systemic pyogenic infections. Pyogenic liver abscess is an uncommon presentation of the disease present in this case. CASE PRESENTATION: A 16-year-old Punjabi, Pakistani boy presented to the outpatient department of a tertiary-care hospital of Lahore with high-grade fever of 2 months duration...
2015: Journal of Medical Case Reports
Yveline Hamon, Monika Legowska, Patricia Fergelot, Sandrine Dallet-Choisy, Louise Newell, Lise Vanderlynden, Ali Kord Valeshabad, Karina Acrich, Hadi Kord, Tsamakis Charalampos, Fanny Morice-Picard, Ian Surplice, Jerome Zoidakis, Karen David, Antonia Vlahou, Shivanna Ragunatha, Nikoletta Nagy, Katalin Farkas, Márta Széll, Cyril Goizet, Beate Schacher, Maurizio Battino, Abdullah Al Farraj Aldosari, Xinwen Wang, Yang Liu, Sylvain Marchand-Adam, Adam Lesner, Elodie Kara, Sevil Korkmaz-Icöz, Celia Moss, Peter Eickholz, Alain Taieb, Salih Kavukcu, Dieter E Jenne, Francis Gauthier, Brice Korkmaz
Papillon-Lefèvre syndrome (PLS) (OMIM: 245000) is a rare disease characterized by severe periodontitis and palmoplantar keratoderma. It is caused by mutations in both alleles of the cathepsin C (CatC) gene CTSC that completely abrogate the proteolytic activity of this cysteine proteinase. Most often, a genetic analysis to enable early and rapid diagnosis of PLS is unaffordable or unavailable. In this study, we tested the hypothesis that active CatC is constitutively excreted and can be easily traced in the urine of normal subjects...
February 2016: FEBS Journal
W Wu, B Chen, X Chen, L Chen, L Yi, Y Wang, F Yan, W Sun
BACKGROUND AND OBJECTIVE: Papillon-Lefèvre Syndrome (PLS) is a rare autosomal recessive hereditary disease (MIM245000). The syndrome is characterized by palmoplantar keratoderma and early onset periodontitis, caused by CTSC gene mutation. The mutation in CTSC previously reported is mainly point mutations. Large deletion in the CTSC gene has not yet been reported. MATERIAL AND METHODS: We collected 5 mL peripheral blood from a patient with PLS and her family members and used the direct sequencing method to perform CTSC bidirectional sequencing...
June 2016: Journal of Periodontal Research
Maha A AlSarheed, Fares S Al-Sehaibany
A 9-year-old girl with Papillon-Lefèvre syndrome (PLS) was treated orthodontically 24 months after the start of mechanical and antibiotic therapy in adjunct with periodontal treatment every 6 weeks. After achieving stable periodontal conditions, orthodontic treatment was commenced to correct the teeth position, facial profile, and maxillary protraction. Following the combination therapy and a failure to detect Actinobacillus actinomycetemcomitans from any site in the oral cavity, orthodontic treatment with a fixed appliance was performed aside from creating space for eruption of permanent teeth...
August 2015: Saudi Medical Journal
A Sulák, L Tóth, K Farkas, K Tripolszki, B Fábos, L Kemény, P Vályi, K Nagy, N Nagy, M Széll
BACKGROUND: Papillon-Lefévre syndrome (PLS; OMIM 245000) and Haim-Munk syndromes (HMS; OMIM 245010) are phenotypic variants of the same rare disease caused by mutations of the cathepsin C (CTSC) gene, and they exhibit autosomal recessive inheritance. AIMS: To identify diseases caused by mutations of the CTSC gene in two Hungarian patients and to perform haplotype analysis to elucidate any familial relationship between them. METHODS: Mutation screening and polymorphism analysis were performed by direct sequencing of the CTSC gene...
March 2016: Clinical and Experimental Dermatology
Basapogu Sreeramulu, Naragani Dvn Shyam, Pilla Ajay, Pathipaka Suman
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and precocious aggressive periodontitis, leading to premature loss of deciduous and permanent dentition at a very young age. Various etiopathogenic factors are associated with the syndrome, like immunologic alterations, genetic mutations, and the role of bacteria. Dentists play a significant role in the diagnosis and management of PLS as there are characteristic manifestations like periodontal destruction at an early age and an early eruption of permanent teeth...
2015: Clinical, Cosmetic and Investigational Dentistry
M J Jijin, H P Jaishankar, Veena Sathya Narayaran, Krupashankar Rangaswamy, Kavitha Ankanathapura Puthaswamy
Papillon-Lefevre Syndrome (PLS) is a rare inherited autosomal-recessive condition with one-third of the patients' showing consanguinity of the parents. Lesions are characterised by palmar-plantar hyperkeratosis and hyperhidrosis. Early onset of periodonditis, severe periodontal destruction in both primary and permanent dentitions, and calcification of the duramater form the three important features of this disease. Here, we present a case of a 14-year-old female who presented to the Department of Oral Medicine and Radiology with a complaint of mobility of the teeth since four months...
May 2015: Journal of Clinical and Diagnostic Research: JCDR
Andreas Glenthøj, Katrin Nickles, Jack Cowland, Niels Borregaard
The α-defensins, human neutrophil peptides (HNPs) are the predominant antimicrobial peptides of neutrophil granules. They are synthesized in promyelocytes and myelocytes as proHNPs, but only processed in promyelocytes and stored as mature HNPs in azurophil granules. Despite decades of search, the mechanisms underlying the posttranslational processing of neutrophil defensins remain unidentified. Thus, neither the enzyme that processes proHNPs nor the localization of processing has been identified. It has been hypothesized that proHNPs are processed by the serine proteases highly expressed in promyelocytes: Neutrophil elastase (NE), cathepsin G (CG), and proteinase 3 (PR3), all of which are able to process recombinant proHNP into HNP in vitro...
2015: PloS One
Sabine Duchatelet, Alain Hovnanian
Olmsted syndrome (OS) is a rare genodermatosis classically characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma (PPK) and periorificial keratotic plaques, but which shows considerable clinical heterogeneity. The disease starts usually at birth or in early childhood. About 73 cases have been reported worldwide. OS is observed in both sexes, although male cases are more frequent. The most suggestive symptoms associate PPK with pseudoainhum and periorificial keratotic plaques...
2015: Orphanet Journal of Rare Diseases
P I Idon, H O Olasoji, M A Fusami
AIMS AND OBJECTIVES: The objective of this paper is to give a review of the literature on the aetiopathogenesis, clinical presentation, differential diagnosis and treatment of Papillon-Lefevre Syndrome, and present three cases of PLS in siblings of the same parents demonstrating typical clinical and radiological features of the condition. CASES: Three cases of Papillon-Lefevre syndrome affecting three girls among six siblings of normal parents who are first-degree cousins...
March 2015: Nigerian Postgraduate Medical Journal
A Mesut Erzurumluoglu, Muslim M Alsaadi, Santiago Rodriguez, Tahani S Alotaibi, Philip A I Guthrie, Sian Lewis, Aasiya Ginwalla, Tom R Gaunt, Khalid K Alharbi, Fahad M Alsaif, Basma M Alsaadi, Ian N M Day
Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early onset periodontitis and palmoplantar hyperkeratosis. A previously reported missense mutation in the CTSC gene (NM_001814.4:c.899G>A:p.(G300D)) was identified in a homozygous state in two siblings diagnosed with PLS in a consanguineous family of Arabic ancestry. The variant was initially identified in a heterozygous state in a PLS unaffected sibling whose whole exome had been sequenced as part of a previous Primary ciliary dyskinesia study...
2015: PloS One
Muhammad Shanavas, Laxmikanth Chatra, Prashanth Shenai, Sreeja Kumar, N Bilahari, Siva Balakrishnan
Papillon-Lefevre Syndrome (PLS) is a rare autosomal recessive genodermatosis characterized by palmar-plantar hyperkeratosis, and destructive periodontitis. It is transmitted with an estimated frequency of one to four per million individuals. The two hallmarks of the syndrome, dermatological lesions and destructive periodontitis, are known to occur as an independent diseases. We present a unique case of Papillon-Lefevre syndrome in a 28 years old woman with its pathognomonic dermatological features without oral features...
November 2014: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Péter Vályi, Katalin Farkas, Kornélia Tripolszki, Adrienn Sulák, Márta Széll, Nikoletta Nagy, Katalin Nagy
Papillon-Lefèvre syndrome, a rare disease with autosomal recessive inheritance, is characterized by aggressive periodontitis and palmoplantar hyperkeratosis. Mutations of the cathepsin C gene are responsible for the development of the disease. In this study, we aimed to describe in details the clinical symptoms and to determine the underlying genetic abnormality in two Hungarian siblings affected by Papillon-Lefèvre syndrome. The siblings are under regular dental and dermatological care since their symptoms appeared, but, due to the fact that genetic analysis of Papillon-Lefèvre syndrome has been available for one or two years in Hungary, their mutation screenings were just recently performed...
September 2014: Fogorvosi Szemle
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