A carregar...
Publicação
Impacto orofacial da síndrome de Papillon-Lefèvre
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 11.77 MB | Adobe PDF |
Autores
Orientador(es)
Resumo(s)
A síndrome de Papillon-Lefèvre é uma doença genética rara, de transmissão autossómica recessiva, associada a mutações no gene que codifica a catepsina C. A alteração funcional desta enzima interfere com mecanismos imunológicos essenciais e contribui para a maior vulnerabilidade dos tecidos periodontais.
A síndrome de Papillon-Lefèvre é classificada como uma queratodermia palmoplantar, caracterizando-se clinicamente pelo espessamento progressivo da pele nas palmas das mãos e plantas dos pés, geralmente com início precoce na infância. Destaca-se pela sua associação com infeções recorrentes e comprometimento imunológico. Na prática odontológica, é particularmente relevante devido à presença de periodontite agressiva precoce, que leva frequentemente à perda prematura dos dentes decíduos e permanentes, podendo culminar em edentulismo ainda na adolescência.
O diagnóstico baseia-se na identificação das manifestações clínicas características, nomeadamente a queratodermia palmoplantar, a periodontite agressiva precoce, frequentemente associadas à perda prematura dos dentes.
Para além da avaliação clínica e radiográfica, os testes genéticos podem confirmar mutações no gene da catepsina C e explicar a variabilidade fenotípica entre os indivíduos afetados.
Neste contexto, o médico dentista assume um papel central na identificação dos sinais clínicos relevantes, no encaminhamento do paciente e na otimização do cuidado odontológico, visando a uma intervenção mais precoce, à preservação da dentição e à melhoria da qualidade de vida dos indivíduos afetados.
O objetivo principal desta tese é realizar uma revisão bibliográfica atualizada da síndrome de Papillon-Lefèvre, abordando as suas múltiplas manifestações clínicas, sistémicas, dermatológicas, imunológicas e psicológicas, com especial atenção às repercussões orofaciais. Pretende-se também destacar a importância do diagnóstico precoce, do diagnóstico diferencial e da abordagem multidisciplinar no acompanhamento destes pacientes.
Papillon-Lefèvre syndrome is a rare genetic disease, of autosomal recessive transmission, associated with mutations in the gene that encodes cathepsin C. The functional alteration of this enzyme interferes with essential immunological mechanisms and contributes to the greater vulnerability of periodontal tissues. Papillon-Lefèvre syndrome is classified as a palmoplantar keratoderma, clinically characterized by progressive thickening of the skin on the palms of the hands and soles of the feet, with an early childhood onset. It stands out for its association with recurrent infections and immunological impairment. In dental practice, it is particularly relevant due to the presence of early aggressive periodontitis, which frequently leads to the premature loss of deciduous and permanent teeth, potentially culminating in edentulism still in adolescence. The diagnosis is based on the identification of the characteristic clinical manifestations, namely palmoplantar keratoderma, early aggressive periodontitis, frequently associated with premature tooth loss. In addition to clinical and radiographic evaluation, genetic tests can confirm mutations in the cathepsin C gene and explain the phenotypic variability among affected individuals. In this context, the dentist assumes a central role in the identification of relevant clinical signs, in the referral of the patient and in the optimization of dental care for earlier intervention, preservation of the dentition and improvement of the quality of life of affected individuals. The main objective of this thesis is to carry out an updated bibliographic review of Papillon-Lefèvre syndrome, addressing its multiple clinical, systemic, dermatological, immunological and psychological manifestations, with special attention to orofacial repercussions. It is also intended to highlight the importance of early diagnosis, differential diagnosis and the multidisciplinary approach in the follow-up of these patients.
Papillon-Lefèvre syndrome is a rare genetic disease, of autosomal recessive transmission, associated with mutations in the gene that encodes cathepsin C. The functional alteration of this enzyme interferes with essential immunological mechanisms and contributes to the greater vulnerability of periodontal tissues. Papillon-Lefèvre syndrome is classified as a palmoplantar keratoderma, clinically characterized by progressive thickening of the skin on the palms of the hands and soles of the feet, with an early childhood onset. It stands out for its association with recurrent infections and immunological impairment. In dental practice, it is particularly relevant due to the presence of early aggressive periodontitis, which frequently leads to the premature loss of deciduous and permanent teeth, potentially culminating in edentulism still in adolescence. The diagnosis is based on the identification of the characteristic clinical manifestations, namely palmoplantar keratoderma, early aggressive periodontitis, frequently associated with premature tooth loss. In addition to clinical and radiographic evaluation, genetic tests can confirm mutations in the cathepsin C gene and explain the phenotypic variability among affected individuals. In this context, the dentist assumes a central role in the identification of relevant clinical signs, in the referral of the patient and in the optimization of dental care for earlier intervention, preservation of the dentition and improvement of the quality of life of affected individuals. The main objective of this thesis is to carry out an updated bibliographic review of Papillon-Lefèvre syndrome, addressing its multiple clinical, systemic, dermatological, immunological and psychological manifestations, with special attention to orofacial repercussions. It is also intended to highlight the importance of early diagnosis, differential diagnosis and the multidisciplinary approach in the follow-up of these patients.
Descrição
Dissertação para obtenção do grau de Mestre no Instituto Universitário Egas Moniz
Palavras-chave
Síndrome de Papillon-Lefèvre Queratodermia palmoplantar Mutação CTSC Periodontite agressiva precoce