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