Rare diseases: a challenge in paediatric dentistry

Area of Science:

• Paediatric Dentistry
• Medical Genetics
• Rare Diseases

Background:

• Rare diseases pose significant challenges in paediatric dentistry due to complex manifestations and the need for specialized care.
• Conditions like X-linked hypophosphatemic rickets (XLH), hypophosphatasia (HPP), and osteogenesis imperfecta (OI) highlight the intersection of systemic and oral health.
• Dentists are often the first to identify genetic disorders through oral symptoms, facilitating early referral for diagnosis.

Purpose of the Study:

• To emphasize the critical role of paediatric dentists in the early recognition and management of rare genetic diseases.
• To highlight specific dental manifestations associated with XLH, HPP, and OI.
• To underscore the importance of a multidisciplinary approach involving dentists, geneticists, and other specialists for optimal patient outcomes.

Main Methods:

• Review of clinical and radiographic features of XLH, HPP, and OI.
• Analysis of the genetic basis and pathogenetic mechanisms of these conditions.
• Discussion of the diagnostic and therapeutic implications for dental professionals.

Main Results:

• XLH presents with enamel hypomineralization, enlarged pulp chambers, short roots, and taurodontism.
• HPP is characterized by early tooth loss, mobility, large pulp chambers, and reduced enamel thickness.
• OI can involve dentinogenesis imperfecta, leading to discolored and weakened teeth.

Conclusions:

• Timely recognition of dental manifestations allows for early diagnosis of rare genetic diseases, potentially before systemic complications arise.
• Paediatric dentists are pivotal in identifying these conditions and initiating referral for genetic evaluation and multidisciplinary management.
• The role of dental professionals extends to tailored treatments, preventive care, and patient education to promote overall well-being.