Rare diseases and oral manifestation - what does the pediatric dentist should be aware of?
DOI:
https://doi.org/10.5327/2525-5711.271Palavras-chave:
Rare diseases, Dental care, Dentists, Child, Oral manifestationResumo
ABSTRACT
Aim: To review basic concepts about rare diseases and their oral manifestations.
A rare disease affects up to 65 people per 100,000 or 1.3 per 2,000 individuals. These diseases present diverse signs and symptoms that vary between individuals and often resemble more common conditions, complicating early diagnosis. Typically, rare diseases are chronic, progressive, and life-threatening, severely impacting the quality of life. They can lead to loss of autonomy in basic functions like walking, eating, or breathing, resulting in clinical and psychosocial suffering for patients and their families. Most rare diseases lack a cure, with treatment focused on managing symptoms, preventing progression, and reducing complications. Multidisciplinary teams usually handle the treatment.
Oral care depends on the patient's overall condition and should follow standardized protocols where available, tailored to the patient's specific needs.
Discussion: Genetic alterations cause most rare diseases, with 75% diagnosed during childhood. Many of these diseases present oral manifestations, making it crucial for pediatric dentists to recognize their significance for early diagnosis, patient referral, and treatment.
Conclusion: Given the prevalence of rare diseases and their oral implications, it is essential for healthcare professionals to be knowledgeable about their management and appropriate clinical approaches.
Referências
Denis A, Simoens S, Fostier C, Mergaert L, Cleemput I. Policies for rare diseases and orphan drugs. Health Technology Assessment (HTA). Brussels: Belgian Health Care Knowledge Centre (KCE); 2009. KCE 112C reports (D/2009/10.273/32).
Brazil. Minister is Rio da Saú de . Secretariat of Health Care. Department of Specialized and Thematic Care. General Coordination of M is day and High Complexity. Guidelines for Comprehensive Care for People with Rare Diseases in the Unified Health System – SUS / Ministry of Health . Secretariat of Health Care. Department of Specialized and Thematic Care. General Coordination of M is day and High Complexity. Brazil : Minist is a river of Health , 2014.
p.
Luo E, Liu H, Zhao Q, Shi B, Chen Q. Dentocraniofacial manifestation and treatment of rare diseases. Int J Oral Sci. 2019 Feb 20; 11(1):9.
Vieira DKR, Attianezi M, Horovitz DD, Llerena Jr JC. Medical genetics care in the SUS: the experience of a medium-sized municipality. Física: Revista de Saúde Coletiva [online] 2013, v. 1, p. 243-261.
Lopes MT, Koch VH, Sarrubbi -Junior V, Gallo PR, Carneiro-Sampaio M. Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, family members and health professionals. Clinics [online]. 2018, v. 73 , e68.
Molina-García A, Castellanos-Cosano L, Machuca-Portillo G, Posada-de la Paz M. Impact of rare diseases on oral health. Med Oral Patol Oral Cir Buccal. September 1, 2016; 21(5):e587-94.
Pan American Health Organization . Prevention and control of genetic diseases and congenital defects: relation to the river of a consultation group. Washington DC, 1984. 30p. Publication o Cientí is at 460 .
Horovitz DDG, Llerena Jr. JC, Mattos RA. Attention to congenital defects in Brazil: current panorama. Cad Saú de Pública . 2005;21:1055-64.
Ribeiro RR, dos Santos BM, Stuani AS, de Freitas AC, de Queiroz AM. Dental findings and dental management in trisomy 18: a case report of a 13-year "long-term survivor". Specific care dentist. 2006 November-December; 26(6):247-51.
Garcia de Paula e Silva FW, de Carvalho FK, Diaz-Serrano KV, de Freitas AC, Borsatto MC, de Queiroz AM. Solitary median maxillary central incisor associated with Goldenhar syndrome: case report. Specific care dentist. 2007 May-June; 27(3):105-7.
de Carvalho FK, Arid J, De Rossi A, Paula-Silva FW, Nelson-Filho P. Solitary Median Central Maxillary Incisor Versus Maxillary Central Incisor Agenesis. J Dent Child (Chic). 2016; 83(1):29- 32.
Ruy Carneiro NC, Duda Deps T, Campos França E, Ribeiro Valadares E, Almeida Pordeus I, Borges-Oliveira AC. Oral health of children and adolescents with mucopolysaccharidosis and a sense of maternal coherence. Specific care dentist. September 2017; 37(5):223-229.
Groft SC. Rare disease research: expanding opportunities for collaborative translational research. Chest. 2013 Jul; 144(1):16-23.
Lima MAFD, Gilbert ACB; Horovitz DDG. Treatment networks and rare disease patient associations. Ciência e Saúde Coletiva [online]. 2018, v. 10 [ Accessed June 16, 2021], pp.
Papadopoulou, C. I., Sifakakis, I., & Tournis, S. (2024). Metabolic Bone Diseases Affecting Tooth Eruption: A Narrative Review. Children (Basel, Switzerland), 11(6), 748.
Foster, B. L., Ramnitz, M. S., Gafni, R. I., Burke, A. B., Boyce, A. M., Lee, J. S., Wright, J. T., Akintoye, S. O., Somerman, M. J., & Collins, M. T. (2014). Rare bone diseases and their dental, oral, and craniofacial manifestations. Journal of dental research, 93(7 Suppl).
Salerno, C., D'Avola, V., Oberti, L., Almonte, E., Bazzini, E. M., Tartaglia, G. M., & Cagetti, M. G. (2021). Rare Genetic Syndromes and Oral Anomalies: A Review of the Literature and Case Series with a New Classification Proposal. Children (Basel, Switzerland), 9(1), 12.
Downloads
Publicado
Como Citar
Edição
Seção
Licença
Copyright (c) 2024 Mariné Olmos Villagomez, Taíssa Cássia de Souza Furtado, Maya Fernanda Manfrin Arnez, Fabrício Kitazono de Carvalho, Alexandra Mussolino de Queiroz, Francisco Wanderley Garcia de Paula-Silva
Este trabalho está licenciado sob uma licença Creative Commons Attribution 4.0 International License.
