RESUMO
Introduction: Hutchinson-Guilford progeria syndrome (HGPS) is a rare genetic disease with a characteristic phenotype of premature aging in young children caused by a mutation in the LMNA gene and consequent accumulation of progerinin the cell. Aim: Describe oral manifestations of Hutchinson-Guilford progeria syndrome. Case Report: This is a case report of a six-year-old female patient with Hutchinson-Guilford Progeria syndrome. The physical examination revealed skin atrophy, lipodystrophy, hair rarefaction, prominent blood vessels of the scalp, craniofacial disproportion, perioral cyanosis and enlarged knee joints. The intraoral exam revealed limited mouth opening, mixed dentition with normal tooth anatomy and anteroinferior crowding. The eruption sequence and chronology were abnormal. The treatment plan included professional prophylaxis, the topical application of fluoride as well as both oral hygiene and dietary counselling. Monitoring the development of dentition and an early and timely dental intervention contributed to the maintenance of child's oral health. Conclusion: Early clinical and educational interventions can help patients with HGPS maintain adequate oral health status and improve their quality of life.
Introdução: A Progéria ou Síndrome de Hutchinson-Guilford (HGPS) é uma doença genética rara com um fenótipo característico de envelhecimento precoce em crianças pequenas, causado por uma mutação no gene LMNA e conseqüente acúmulo de progerina na célula. Objetivo: Descrever as manifestações orais da Síndrome de Hutchinson-Guilford. Relato do Caso: Este é um relato de caso de uma paciente de seis anos com Síndrome de Hutchinson-Guilford. O exame físico revelou atrofia da pele, lipodistrofia, rarefação dos cabelos, vasos sangüíneos proeminentes no couro cabeludo, desproporção craniofacial, cianose perioral e aumento das articulações dos joelhos. O exame intraoral revelou abertura bucal limitada, dentição mista com anatomia dentária normal e apinhamento ântero-inferior. A sequência e a cronologia de erupção estavam alteradas. O plano de tratamento incluiu profilaxia profissional, aplicação tópica de flúor, bem como orientação de higiene bucal e aconselhamento dietético. O acompanhamento do desenvolvimento da dentição e a intervenção odontológica precoce e oportuna colaboraram com a manutenção da saúde bucal da criança. Conclusão: Intervenções clínicas e educacionais precoces podem ajudar os pacientes com HGPS a manter um estado de saúde bucal adequado e melhorar sua qualidade de vida.
Assuntos
Humanos , Feminino , Criança , Progéria , Saúde Bucal , Intervenção Educacional PrecoceRESUMO
The aim of this study was to review the effects of early and late hard palate repair on maxillary growth. PubMed, Scopus, Web of Science, LILACS, Cochrane Library CENTRAL databases, OpenGrey, Google Scholar, and Clinical Trials were searched using a PICO strategy, with terms related to unilateral cleft lip and palate (UCLP) and timing of repair. Methodological quality evaluation was carried out using the Fowkes and Fulton guidelines, and quality (or certainty) of evidence and strength of recommendations were evaluated using GRADE (grading of recommendations, assessment, development and evaluation). Five retrospective and non-randomized studies were included in the study. Folkes and Fulton assessment showed a high risk of bias in all articles and very low levels of certainty (GRADE). The results showed conflicting findings for comparisons of the effects of timing of repair of hard palate in UCLP. Two studies presented better maxillary growth in a group operated on later (18 months after birth), two presented no differences between the results, and another presented better results in the group operated on earlier than 18 months of age. At this point, it cannot be proven or refuted that postponing hard palate surgery brings benefits for maxillary growth. Studies included in this review did not show similar conclusions. Randomized clinical trials present some ethical issues that make them difficult to perform.
