Table 2.
Summary of Clinical Features in Periodontal EDS
| Clinical Features | Prevalence |
|---|---|
| Oral Features | |
| Early-onset periodontitisa | 99% |
| Gingival recessions | 98% |
| Thin gingiva and/or absence of attached gingival | 93% |
| Skin | |
| Easy bruising | 96% |
| Pretibial hyperpigmentation (not observed in family 1) | 83% |
| Skin fragility | 83% |
| (Mild) elastic skin | 73% |
| Abnormal scarring (atrophic or wide) | 50% |
| Prominent vasculature | 50% |
| Joint Features | |
| Joint hypermobilityb | 44% |
| Joint pain | 31% |
| Flat feet | 30% |
| Scoliosis | 22% |
| Osteoarthritis | 9% |
| Joint dislocation | 4.8% |
| Others | |
| Recurrent infections (e.g., bladder, epididymitis, eye, zoster, otitis media) | 40% |
| Marfanoid facial features | 30% |
| Hernia (inguinal, umbilical, hiatal, abdominal, surgical) | 25% |
| Aneurysms (present only in families 5, 6, and 14) | 16% |
| Cancer (more prevalent in individuals with C1S mutations) | 11% |
| Autoimmune disorder (present only in family 1) | 7.7% |
| Organ rupture (3 times in individual 1:III-10) | — |
Prevalence rates are based on 93 individuals with mutations in C1R or C1S, and with respective clinical data from the present cohort (Table S1).
a
Age of first tooth loss, 2–30 years; age of complete tooth loss, 14–48 years; prepubertal periodontitis (age <10 years), 16%.
b
Fingers, 30%; elbows, 19%; knees, 11%; hips, wrist, and ankle, 3%.