Gene mutational analyses of cathepsin C gene in a family with Papillon-Lefèvre syndrome / 华西口腔医学杂志

OBJECTIVE@#This study aimed to investigate the gene mutational characteristics of cathepsin C (CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome (PLS) and further confirm the genetic basis for the phenotype of PLS.@*METHODS@#Peripheral blood samples were obtained from the PLS proband and his family members (his parents and younger brother) for genomic DNA extraction. The coding region and exon boundaries of the CTSC gene were amplified and sequenced by polymerase chain reaction and direct sequencing of DNA.@*RESULTS@#Compound heterozygous mutations of CTSC gene were identified in the patient. A heterozygous missense mutation occurred in the 800th base of exon 6, and the base T in the base pair was replaced by C (c.800T>C). The encoded amino acid leucine changed to proline (p. L267P). A heterozygous missense mutation occurred in the 1015th base of exon 7, and base C in the base pair was replaced by T (c.1015C>T). The encoded amino acid arginine changed to cysteine (p.R339C). Among the mutations, c.800T>C originated from the mother, c.1015C>T was identified from the father. No mutations were detected in the younger brother.@*CONCLUSIONS@#Mutations of CTSC gene are responsible for the phenotype of PLS.

Long†term results after treatment of periodontitis in patients with Papillon Lefevre syndrome with or without antibiotics a comparative study

Aim: Evaluation of periodontal status in patients with Papillon–Lefèvre syndrome (PLS) observed for ≥5 years, Treatment of patients of PLS with SRP and maintenance for a period of ≥5 years, Comparing the effects of treatment of periodontitis in (PLS) patients with SRP (scaling and root planning) as a monotherapy with antibiotics as an adjunct. Materials and methods: All subject showing signs and symptoms of PLS, were selected for this study comprising of both the sexes, visiting outpatient Department of Periodontology, Govt. Dental College and Hospital Srinagar. Eight patients (aged 5-12 years) from five families (three pairs of siblings) were included. Subjects were randomly distributed into two groups 4 patients each. Control group- Group A given SRP + Placebo and Treatment group- Group B given SRP + 250 mg of amoxicillin TDS and 125 clavulanate for 14 days and metronidazole 250 mg BD for 14 days . Results: In this study by comprehensive maintenance therapy in both the groups we delay the loss of dentition of the patients of PLS. The use of antibiotics had proven to show a statistically significant difference in retaining the teeth of PLS. Patients compared to the control. Conclusion: PLS patients, periodontitis may be arrested by combined mechanical and antibiotic periodontal treatment; extraction of severely diseased teeth; oral hygiene instructions; intensive maintenance therapy; and microbiological monitoring and treatment of the infection with Aggregatibacter actinomycetemcomitans.

Papillon-Lefevre Syndrome-A Report of Two Cases

Papillon-Lefevre syndrome is a rare autosomal recessive trait characterised by palmoplantar hyperkeratosis and precocious loss of both deciduous and permanent teeth. The aetiology is multifactorial with genetic, immunological, microbiological factors being considered a main etiopathogenic factors. We present here two cases of two siblings affected with Papillon-Lefevre syndrome.

Papillon lefevre A rare syndrome

Papillon lefevre syndrome (PLS) belongs to a heterogeneous group of skin diseases that are characterized by hyperkeratosis of palms and soles and 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. Loss of CTSC function is responsible for the severe periodontal destruction seen clinically. This report represents classical signs and symptoms of PLS in a 6 year old girl.

Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome / 华西口腔医学杂志

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>With their consent, peripheral blood samples were obtained from the proband and his family members (his parents and older sister) for genomic DNA extraction. The coding region and exon/intron boundaries of the CTSC gene were amplified and sequenced using poly-merase chain reaction and direct sequencing of DNA.</p><p><b>RESULTS</b>Compound heterozygous mutations of CTSC gene were iden-tified in the patient. The proband carries one heterozygous nonsense mutation c.754C>T in exon 5 and one heterozygous missense mutation c.1040A>G in exon 7. Both parents were heterozygous carriers without the clinical symptoms of PLS. None of the mutations were detected in the proband's sister.</p><p><b>CONCLUSIONS</b>The study proves that mutations of CTSC gene are responsible for the phenotype of Papillon-Lefèvre syndrome.
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Papillon-Lefèvre syndrome: a case report and mutation analysis of the cathepsin C gene / 中华皮肤科杂志

Objective To analyze mutations in the cathepsin C (CTSC) gene in a patient with Papillon-Lefèvre syndrome (PLS).Methods Clinical data were collected from a patient with PLS.Two milliliters of venous blood samples were obtained from the patient,his parents and 100 unrelated healthy controls separately.DNA was extracted from these blood samples,and PCR was performed to amplify all the 7 exons of the CTSC gene followed by direct DNA sequencing.Results Two heterozygous mutations were observed in the CTSC gene of the patient.One was a novel mutation c.824C ＞ T at position 824 in the exon 6,which resulted in a substitution of ACC (threonine) by ATC (isoleucine) at codon 275 (p.T275I).The other one was the mutation c.1040A ＞ G at position 1040 in the exon 7,causing the substitution of TAT (tyrosine) by TGT (cysteine) at codon 347 (p.Y347C).His father and mother carried the heterozygous mutation c.824C ＞ T and c.1040A ＞ G respectively.Neither of the two mutations was observed in the 100 healthy controls.Conclusions CTSC mutations are responsible for the clinical phenotype of PLS.Identification of the c.824C ＞ T mutation extends the spectrum of mutations in the CTSC gene and provides a basis for genetic diagnosis of PLS.

Spectrum of Papillon–Lefevre syndrome.

Papillon–Lefevre syndrome is an extremely rare autosomal recessive disorder characterized by severe periodontal disease with hyperkeratosis and fissuring of the palms and soles. Periodontitis is severe and destructive affecting both deciduous and permanent dentitions associated with palmo-plantar hyperkeratosis. These manifestations usually appear in childhood between 1 and 4 years of age and deciduous teeth exfoliate within or at the age of six. Permanent teeth erupt normally but soon get affected by periodontal disease. Individual becomes edentulous within teenage. Hyperkeratotic lesions extend to knees and elbows. Some cases have shown inconsistent manifestations such as calcification of falx cerebri and choroid plexus, calcification of the dura, attachment of the tentorium, thumb nail dystrophy and hyperhidrosis.

A Case of Atypical Maxillary Sinusitis Accompanied with Papillon-Lefevre Syndrome / 대한이비인후과학회지

Papillon-Lefevre syndrome (PLS) is an extremely rare autosomal recessive disorder characterized by palmoplantar keratoderma and periodontitis and occuring with an estimated incidence of 1-4 cases per million. Patients with PLS are highly susceptible to infection. The etiology of an infective susceptibility is unknown; however, an association with defects in neurophil dysfunction, insufficient lymphocyte response to pathogens, defects in monocyte functions and impairment of NK cell cytotoxic function has been suggested. To our knowledge, this is the first case report of atypical maxillary sinusitis accompanied by PLS, and we represent the case with a review of the related literatures.

Síndrome de Papillon-Lefèvre: reporte de un caso clínico / Papillon-Lefèvre syndrome: report of a clinical case

En este artículo se describe el caso de una paciente de seis años de edad diagnosticada con el síndrome de Papillon-Lefèvre, una rara enfermedad hereditaria de transmisión autosómica recesiva y de etiología desconocida. La paciente presentaba hiperqueratosispalmoplantar. La principal manifestación oral es una periodontitis agresiva que hace que se pierda la dentición primaria y, antes de los quince años de edad, generalmente, sufra la pérdida de su dentición permanente. Los tratamientos generalmente son paliativos yprotésicos desde la infancia...

A case of a six-year-old female patient with a diagnosis of Papillon-Lefèvre syndrome is described. This is a rare hereditary autosomal recessive disease with unknown etiology. The patient presented palmoplantar hyperkeratosis. The main oral manifestation is an aggressiveperiodontitis that causes the patient to lose their deciduous teeth and before the age of fifteen, to lose the permanent dentition. Treatment is generally palliative and prostheticstarting at early age...

Keratosis palmoplantaris associated with early-onset periodontitis: a case report / Queratosis palmoplantar asociada con periodontitis incipiente: reporte de un caso

Keratosis palmoplantaris associated with periodontopathy or Papillon Lefevre syndrome is a very rare genetic disorder with autosomal recessive mode of inheritance and is characterized by hyperkeratosis of the palms and soles and early onset of a severe destructive periodontitis. The clinical presentation, differential diagnosis, therapeutic and periodontal management of an 8-year old male child diagnosed with this syndrome is discussed.

La queratosis palmoplantar asociada con la periodontopatía - también conocida como síndrome de Papillon Léfèvre - es un trastorno genético muy poco común, con un modo de herencia autosómico recesivo. Se caracteriza por la hiperqueratosis de las palmas de las manos y las plantas de los pies y el inicio temprano de una periodontitis destructiva severa. Se analiza la presentación clínica, el diagnóstico diferencial, así como el tratamiento terapéutico y periodontal de un niño de 8 años de edad con este síndrome.

Papillon- lefevre syndrome with liver abscess.

An 8 year old boy presented with fever of unknown origin in whom the diagnosis of liver abscess was made. He also had palmoplantar keratoderma and premature loss of teeth, consistent with the diagnosis of Papillon Lefevre syndrome.

Two Cases of Papillon-Lefevre Syndrome / 대한피부과학회지

Papillon-Lefevre syndrome is an extremely rare genodermatosis characterized by palmoplantar keratoderma and premature loss of teeth. It is inherited as an autosomal recessive trait, and is known to be caused by a loss-of-function mutation in the cathepsin C gene. Mutations of this gene may result in epithelial defects producing keratoderma and secondary periodontitis recalcitrant to traditional treatment, causing subsequent premature loss of teeth. In addition, patients may have increased susceptibility to infection. Histopathologic features are nonspecific, so diagnosis has been made through characteristic skin and teeth findings in many reported cases. Oral retinoids are the mainstay of treatment, but the safety of oral retinoids in children remains controversial due to their side effects in skeletal development. Therefore, a multidisciplinary approach is important for the care of patients with this syndrome. We present two cases of Papillon-Lefevre syndrome. To our knowledge, this condition has not been reported previously in the Korean dermatologic literature.