Undiagnosed and rare diseases: current challenges, perspectives and contribution of oral cavity examination

Abstract

In a recent article, Haendel et al. suggested that one of the main challenges of precision medicine is to categorize patients on the basis of similarities of specific characteristics and phenotypes. 1 However, there is no standardized pattern to collect information on and describe those features. Indeed, the phenotypic information about individual patients is often insufficiently detailed or inaccessible, hampering detection and classification of similarities into clinically useful groups. This situation tends to be worse with regard to uncommon diseases, for which available information is sparse. 1 Because of the complexity of undiagnosed and rare diseases, we can ask ourselves, what would be the role of the dentist with regard to these conditions? Each rare disease, taken separately, affects a limited number of people. However, considering that there are up to 8000 types of rare diseases worldwide, when grouped under a single category, their epidemiologic impact may become quite significant. It is estimated that in Brazil, there are 13 to 15 million people with a rare disease in Brazil. 2 Rare diseases are characterized by numerous signs and symptoms that vary not only among different diseases but also among patients with these diseases (http://portalms.saude. gov.br/atencao-especializada-e-hospitalar/especiali dades/doencas-raras). About 80% of such diseases are caused by genetic factors and the rest by environmental, infectious, immunological, and other factors. 1 Thus, undiagnosed and rare diseases are a global challenge that must be overcome. Global networks, funds, and new technology development are necessary to meet this goal. 3 All international programs involve multiprofessional and interdisciplinary interactions among several specialties, such as pediatrics,

Knowledge and Associated Factors about Rare Diseases among Dentists in Israel: A Cross Sectional Survey

“…Accordingly, knowledge about rare diseases may be improved by combining those factors. These findings are not surprising, as more academics support the idea of further education about rare diseases [ 22 , 23 , 24 ], and increasing numbers of reviews about rare diseases [ 11 , 25 ], including those with orofacial manifestations [ 1 , 18 , 26 , 27 , 28 ], are being published.…”

A review of genetic syndromes associated with hypertrichosis

“…There has been a growing recognition that rare diseases are relevant medical and social problems [8][9][10] . In this study, 121 genetic disturbances associated with hypertrichosis were identified.…”

“…The prevalence of congenital generalized hypertrichosis is very rare 2 . Nevertheless, no universally accepted definition for rare diseases has yet been established 10,14 . According to the World Health Organization (WHO) and the criterion adopted by the Ministry of Health of Brazil, a rare disease is a disease whose prevalence affects less than 65/100,000 individuals or 1.3/2,000 individuals 15,16 .…”

Rare Diseases and COVID-19: How are the Patients?

“…Of these, only Guillain-Barré syndrome and Miller Fisher syndrome, Kawasaki diseases and Inflammatory multisystem syndrome have currently present cranio-facial manifestation (Table 1), but possibly others will become know when the damage of COVID-19 becomes known.Although there is no standardized definition of rare diseases, the classification of rare diseases is closely related to a definition according to point prevalence in the current political and legislative context, and such definitions are based on a prevalence threshold directly or implied. According to the World Health Organization (WOS) and adopted by the Ministry of Health of Brazil, a rare disease affects up to 65 per 100,000 individuals [30]. Each rare disease, taken separately, affects a limited number of people.…”

“…Although there is no standardized definition of rare diseases, the classification of rare diseases is closely related to a definition according to point prevalence in the current political and legislative context, and such definitions are based on a prevalence threshold directly or implied. According to the World Health Organization (WOS) and adopted by the Ministry of Health of Brazil, a rare disease affects up to 65 per 100,000 individuals [30]. Each rare disease, taken separately, affects a limited number of people.…”