keyword
MENU ▼
Read by QxMD icon Read
search

Papillon–Lefèvre syndrome

keyword
https://www.readbyqxmd.com/read/28453856/papillon-lefevre-syndrome
#1
Tanay Chaubal, Ranjeet Bapat, Pooja Wadkar
No abstract text is available yet for this article.
April 26, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28350623/ocular-surface-squamous-neoplasia-in-papillon-lef%C3%A3-vre-syndrome-outcome-at-long-term-follow-up-of-12-years
#2
Swathi Kaliki, Swati Singh, Swarnalata Gowrishankar, Vijay Anand P Reddy
PURPOSE: To discuss the association between ocular surface squamous neoplasia (OSSN) and Papillon-Lefèvre syndrome (PLS) and present the long-term outcome in a patient with these diseases. METHODS: Case report. RESULTS: A 14-year-old boy presented with a raised pigmented mass lesion at the limbus in the right eye, which was clinically suggestive of OSSN. He also had palmoplantar hyperkeratosis and periodontosis suggestive of PLS. Excision biopsy of the lesion confirmed the diagnosis of OSSN...
June 2017: Cornea
https://www.readbyqxmd.com/read/28317349/-gene-mutational-analyses-of-the-cathepsin-c-gene-in-families-with-papillon-lef%C3%A3-vre-syndrome
#3
Chen Yuanjiao, Li Chen-Jun
OBJECTIVE: This study aims to investigate the gene mutational characteristics of cathepsin C (CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome (PLS), then further confirm the genetic basis for the phenotype of PLS, and obtain genetic information that can be used as guide in the diagnosis and treatment of PLS. METHODS: With their consent, peripheral blood samples were obtained from the proband and his family members (his parents and older sister) for genomic DNA extraction...
August 1, 2016: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
https://www.readbyqxmd.com/read/28242153/-papillon-lef%C3%A3-vre-syndrome-a-new-case
#4
S Martinho, T Levade, P Fergelot, J-L Stephan
Papillon-Lefèvre syndrome (PLS) is a rare primary immunodeficiency, which combines severe periodontal disease with edentulism and palmoplantar keratosis (PPK). PLS is inherited as an autosomal recessive trait and is due to mutations in the cathepsin C gene. The biological properties of the neutrophils (PN) are altered, leading to a gingival dysbiosis and bacterial overgrowth, with intense inflammation of the periodontium. We report the observation of a 4-year-old girl who presented to the clinic with gingivitis, partial edentulism, and PPK, whose diagnosis, raised after a long delay, was suggested by null cathepsin C activity and confirmed by the presence of heterozygous mutations in exon 4: c...
February 24, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28193451/prolonged-pharmacological-inhibition-of-cathepsin-c-results-in-elimination-of-neutrophil-serine-proteases
#5
Carla Guarino, Yveline Hamon, Cécile Croix, Anne-Sophie Lamort, Sandrine Dallet-Choisy, Sylvain Marchand-Adam, Adam Lesner, Thomas Baranek, Marie-Claude Viaud-Massuard, Conni Lauritzen, John Pedersen, Nathalie Heuzé-Vourc'h, Mustapha Si-Tahar, Erhan Fıratlı, Dieter E Jenne, Francis Gauthier, Marshall S Horwitz, Niels Borregaard, Brice Korkmaz
Cathepsin C (CatC) is a tetrameric cysteine dipeptidyl aminopeptidase that plays a key role in activation of pro-inflammatory serine protease zymogens by removal of a N-terminal pro-dipeptide sequence. Loss of function mutations in the CatC gene is associated with lack of immune cell serine protease activities and cause Papillon-Lefèvre syndrome (PLS). Also, only very low levels of elastase-like protease zymogens are detected by proteome analysis of neutrophils from PLS patients. Thus, CatC inhibitors represent new alternatives for the treatment of neutrophil protease-driven inflammatory or autoimmune diseases...
February 11, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28091448/oro-dental-characteristics-of-three-siblings-with-papillon-lefevre-syndrome
#6
O E Gungor, H Karayilmaz, H Yalcin, M Hatipoğlu
Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder, showing oral and dermatological manifestations in the form of aggressive periodontitis, leading to the premature loss of both primary and permanent teeth at a very young age and palmar-plantar hyperkeratosis. It was first described by two French physicians, Papillon and Lefevre in 1924. Immunologic, genetic, or possible bacterial etiologies have been thought to account for etiopathogenesis of PLS. Severe gingival inflammation and periodontal destruction occurred after the eruption of primary teeth...
February 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/27806824/papillon-lefevre-syndrome-prosthodontic-rehabilitation-of-oral-function
#7
Ayesha Aslam, Nida Ovais, Muhammad Uzair Riaz, Bilal Ahmed
No abstract text is available yet for this article.
October 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/27730712/stimulus-dependent-netosis-by-neutrophils-from-a-papillon-lef%C3%A3-vre-syndrome-patient
#8
LETTER
M Batinica, A Stephan, J Steiger, I Tantcheva-Poόr, S A Eming, M Fabri
No abstract text is available yet for this article.
October 12, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27658951/papillon-lef%C3%A3-vre-syndrome-a-series-of-five-cases-among-siblings
#9
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...
September 22, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27579005/whole-exome-sequencing-reveals-a-recurrent-mutation-in-the-cathepsin-c-gene-that-causes-papillon-lefevre-syndrome-in-a-saudi-family
#10
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
https://www.readbyqxmd.com/read/27256535/-oral-status-of-a-child-with-papillon-lefevre-syndrome-over-10-year-follow-up
#11
Y Yang, L H Ge
No abstract text is available yet for this article.
2016: Zhonghua Kou Qiang Yi Xue za Zhi, Zhonghua Kouqiang Yixue Zazhi, Chinese Journal of Stomatology
https://www.readbyqxmd.com/read/27222657/primary-immunodeficiencies-associated-with-eosinophilia
#12
REVIEW
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
https://www.readbyqxmd.com/read/27062382/papillon-lef%C3%A3-vre-syndrome-report-of-six-patients-and-identification-of-a-novel-mutation
#13
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
https://www.readbyqxmd.com/read/27060303/-screening-of-ctsc-gene-mutations-in-a-chinese-pedigree-affected-with-papillon-lefevre-syndrome
#14
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
https://www.readbyqxmd.com/read/26683691/papillon-l%C3%A3-fevre-syndrome-with-palmoplantar-keratoderma-and-periodontitis-a-rare-cause-of-pyrexia-of-unknown-origin-a-case-report
#15
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
https://www.readbyqxmd.com/read/26607765/analysis-of-urinary-cathepsin-c-for-diagnosing-papillon-lef%C3%A3-vre-syndrome
#16
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
https://www.readbyqxmd.com/read/26385525/a-novel-large-deletion-combined-with-a-nonsense-mutation-in-a-chinese-child-with-papillon-lef%C3%A3-vre-syndrome
#17
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
https://www.readbyqxmd.com/read/26219452/combined-orthodontic-and-periodontic-treatment-in-a-child-with-papillon-lef%C3%A3-vre-syndrome
#18
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
https://www.readbyqxmd.com/read/26205983/one-mutation-two-phenotypes-a-single-nonsense-mutation-of-the-ctsc-gene-causes-two-clinically-distinct-phenotypes
#19
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
https://www.readbyqxmd.com/read/26203280/papillon-lef%C3%A3-vre-syndrome-clinical-presentation-and-management-options
#20
REVIEW
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
keyword
keyword
97864
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"