Conditions / Genetic

Ehlers-Danlos syndrome periodontal type 1

info ยท Genetic

An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13.

Signs and symptoms

  • Pretibial plaque
  • Gingival fragility
  • Bruising susceptibility
  • Periodontitis
  • Gingival recession
  • Gingival bleeding
  • Fragile skin
  • Hyperextensible skin
  • Atrophic scars
  • Autoimmunity