RESUMO
Papillon-Lefevre syndrome [PLS] is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early development of aggressive periodontitis. Although cathepsin C [CTSC] gene mutations have been established in about 70-80% of PLS patients, it is assumed that the patients may have dysfunctioning of immune defense mechanisms. To assess the association of HLA class II genes and PLS. HLA class II genes were typed in nine Iranian PLS patients and their family members and the results were compared to 816 Iranian healthy subjects. The results of this study revealed that DRB1*0101 and DRB1*0301 alleles were more frequent in PLS patients than in normal controls. However, there was no significant difference between PLS patients and normal controls. Moreover, the same haplotypes and genotype combinations were also observed in some patients and their healthy siblings. The results of this study showed no strong association between HLA class II alleles and PLS
Assuntos
Humanos , Masculino , Feminino , Polimorfismo Genético , Doença de Papillon-Lefevre/genética , Consanguinidade , Periodontite Agressiva , Ceratodermia Palmar e PlantarRESUMO
Papillon Lefevre Syndrome is a rare autosomal recessive disorder, presented with palmoplantar hyperkeratosis with progressive periodontitis resulting in early loss of the teeth and patients eventually become edentulous in early stage of life. In this article classical clinical presentation, lab investigation and management of a patient of 20 year old man are presented
Assuntos
Humanos , Masculino , Doença de Papillon-Lefevre/genética , Doenças Periodontais/genética , Ceratodermia Palmar e Plantar , Síndrome , Doenças Raras , Transtornos Cromossômicos , Boca Edêntula , PeriodontiteRESUMO
Papillon-Lefevre syndrome is a very rare autosomal recessive condition characterised by pronounced palmoplantar hyperkeratosis and severe early onset periodontitis, leading to early loss of teeth. Here, we report a case of Papillon-Lefevre syndrome with a brief discussion on treatment aspect
Assuntos
Humanos , Feminino , Doença de Papillon-Lefevre/genética , Periodontite/etiologia , Periodontite/genética , Mobilidade Dentária/etiologia , Genes Recessivos , Radiografia Panorâmica , Aberrações Cromossômicas , Diagnóstico DiferencialRESUMO
The Papillon-Lefevre syndrome is a rare genetic disorder with a predisposition to severe infections. We describe Papillon-Lefevre syndrome in a 17 year old boy from a family where four out of eight siblings were affected with this disease and who presented with recurrent pyogenic liver abscesses over a period of 9 years, an association never previously reported.
Assuntos
Adolescente , Humanos , Abscesso Hepático/complicações , Masculino , Doença de Papillon-Lefevre/genéticaRESUMO
Papillon-Lefevre Syndrome (PLS) is an inherited autosomal recessive disorder presenting with Palmar plantar Keratoderma and Juvenile Periodontitis leading to early loss of both the dentitions. Two cases of PLS in a family with a history of consanguineous descent are presented.
Assuntos
Adolescente , Adulto , Periodontite Agressiva/patologia , Consanguinidade , Feminino , Genes Recessivos/genética , Humanos , Ceratodermia Palmar e Plantar/patologia , Masculino , Doença de Papillon-Lefevre/genética , Perda de Dente/patologia , Mobilidade Dentária/patologiaRESUMO
Papillon Lefevre Syndrome is a rare syndrome autosomal recessive in nature, manifesting as keratosis palmoplantaris with periodontitis. A case of Papillon Lefevre Syndrome present in a 12 year old boy is presented. Only the permanent maxillary canines were present in the oral cavity when the patient was first seen, and despite efforts towards preservation, they had to be extracted. (complete dentures were made and the patient was followed up for 26 months.
Assuntos
Perda do Osso Alveolar/etiologia , Criança , Prótese Total , Seguimentos , Humanos , Masculino , Doença de Papillon-Lefevre/genética , Doenças Periodontais/etiologia , Perda de Dente/etiologia , Mobilidade Dentária/etiologiaRESUMO
Foram estudados três irmäos, portadores de ceratose palmoplantar transgressiva associada à periodontopatia, com perda dos elementos dentários temporários e permanentes, com marcada consaguinidade entre os pais, avós e bisavós, mostrando tratar-se de herança autossômica recessiva, preenchendo os critérios da síndrome de Papillon-Lefèvre, condiçäo rara que merece contínua investigaçäo.
Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adulto , Periodontite Agressiva/etiologia , Consanguinidade , Doença de Papillon-Lefevre/genética , Ceratodermia Palmar e Plantar/etiologia , Evolução Clínica , Síndrome de Marfan , Manifestações Bucais , Retinoides , Manifestações CutâneasRESUMO
Dentro del grupo de la queratodermias palmo-plantares, con padrón hereditario autosómico recesivo, se describe el síndrome de Papillon-lefevre, asociado entre otras anomalias con alteraciones dentales y calcificaciones intracraneales. Reportamos el caso de dos familias afectadas con el sindrome, hacemos una breve revisón de la literatura, estudio genético-clínico de las familias, y se recalca la importancia del consejo genético, como forma de prevención.