Rare diseases and oral manifestations: what pediatric dentists should know?

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

doi:10.5327/2525-5711.271

Authors

Mariné Olmos Villagomez University of São Paulo, School of Dentistry of Ribeirão Preto, Department of Pediatric Dentistry – Ribeirão Preto (SP), Brazil https://orcid.org/0009-0008-5009-7740
Taíssa Cássia de Souza Furtado University of São Paulo, School of Dentistry of Ribeirão Preto, Department of Pediatric Dentistry – Ribeirão Preto (SP), Brazil https://orcid.org/0000-0002-8186-1798
Maya Fernanda Manfrin Arnez University of São Paulo, School of Dentistry of Ribeirão Preto, Department of Pediatric Dentistry – Ribeirão Preto (SP), Brazil https://orcid.org/0000-0002-1044-0937
Fabrício Kitazono de Carvalho University of São Paulo, School of Dentistry of Ribeirão Preto, Department of Pediatric Dentistry – Ribeirão Preto (SP), Brazil https://orcid.org/0000-0002-4837-0583
Alexandra Mussolino de Queiroz University of São Paulo, School of Dentistry of Ribeirão Preto, Department of Pediatric Dentistry – Ribeirão Preto (SP), Brazil https://orcid.org/0000-0003-2900-5000
Francisco Wanderley Garcia de Paula-Silva University of São Paulo, School of Dentistry of Ribeirão Preto, Department of Pediatric Dentistry – Ribeirão Preto (SP), Brazil https://orcid.org/0000-0001-8559-532X

DOI:

https://doi.org/10.5327/2525-5711.271

Keywords:

Rare diseases, Dental care, Pediatric dentists, Children, Oral manifestations

Abstract

A rare disease affects up to 65 people per 100,000 or 1.3 per 2,000 individuals. These diseases present a variety of signs and symptoms that can vary between individuals and often resemble more common conditions, complicating early diagnosis. Rare diseases are typically chronic, progressive, and fatal, severely impacting the quality of life. They may lead to the loss of autonomy in basic functions such as walking, eating, or breathing, resulting in clinical and psychosocial suffering for both patients and their families. Most rare diseases are incurable, with treatment focused on managing symptoms, preventing progression, and reducing complications. Treatment is often handled by multidisciplinary teams. Oral care depends on the patient's overall condition and should follow standardized protocols where available, tailored to the patient's specific needs. Genetic alterations are the cause of most rare diseases, with 75% diagnosed in 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. 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. This paper aims to review basic concepts about rare diseases and their oral manifestations.

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