Enamel defects and Lyonization in focal dermal hypoplasia

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004 Dec;98(6):686-91. doi: 10.1016/j.tripleo.2004.02.061.

Abstract

We report a pattern of enamel hypoplasia in focal dermal hypoplasia similar to that found in females with X-linked amelogenesis imperfecta. Three cases of focal dermal hypoplasia are described, with specific focus on the oral and dental features. In these cases the teeth all had vertical grooving with notching of the incisal or cuspal tips. Also recorded were blunt roots of taurodont form with open apices and missing teeth in 1 case. Oral papillomas were present in 2 cases. The pattern of enamel defects is attributed to Lyonization, which is consistent with the pattern of skin and bone lesions typically seen in focal dermal hypoplasia. This supports the proposal that focal dermal hypoplasia is X-linked. The authors conclude that the pattern of dental defects in focal dermal hypoplasia is consistent with Lyonization.

Publication types

  • Case Reports

MeSH terms

  • Anodontia / pathology
  • Child
  • Child, Preschool
  • Dental Enamel / abnormalities*
  • Dental Pulp Cavity / abnormalities
  • Female
  • Focal Dermal Hypoplasia / genetics
  • Focal Dermal Hypoplasia / pathology*
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Infant
  • Male
  • Mouth Neoplasms / pathology
  • Papilloma / pathology
  • Tooth Crown / abnormalities
  • Tooth Root / abnormalities