Oral Signs of Genetic Disease

Julio C. Sartori-Valinotti, Jennifer Lynn Hand

Research output: Chapter in Book/Report/Conference proceedingChapter


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.

Original languageEnglish (US)
Title of host publicationOral Signs of Systemic Disease
PublisherSpringer International Publishing
Number of pages26
ISBN (Electronic)9783030108632
ISBN (Print)9783030108618
StatePublished - Jan 1 2019


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

ASJC Scopus subject areas

  • Medicine(all)
  • Dentistry(all)


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