Oral Signs of Genetic Disease

  • Julio C. Sartori-Valinotti
  • Jennifer L. HandEmail author


Many genetic disorders affect the oral mucous membranes. Several of these conditions are associated with late-onset complications with great impact in the individual’s overall life expectancy and quality of life. For example, patients with dyskeratosis congenita develop premalignant oral leukoplakia, and patients with osteogenesis imperfecta have severe dental anomalies necessitating early and specialized dental care. Most importantly, individuals with undiagnosed disease may undergo banal procedures with lethal consequences such as exsanguination following tooth extraction in patients with Hermansky-Pudlak syndrome. With recent advances in technology and improved screening tests, the opportunity to prevent such complications and improve life expectancy is greater than ever before.

This chapter focuses on the etiopathogenesis and clinical findings of specific genetic disorders with special emphasis on the oral manifestations. A brief discussion on current treatment approaches is also presented.


Genodermatoses Oral disease Incontinentia pigmenti Pachyonychia congenita Dyskeratosis congenita Rothmund-Thomson syndrome Hereditary hemorrhagic telangiectasia Hermansky-Pudlak syndrome 


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© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Julio C. Sartori-Valinotti
    • 1
  • Jennifer L. Hand
    • 1
    Email author
  1. 1.Department of DermatologyMayo Clinic and FoundationRochesterUSA

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