Periodontal EDS (pEDS)

ESTIMATED PREVALENCE: <1 in 1,000,000 [64]

INHERITANCE PATTERN: Autosomal Dominant

SYMPTOMS [65]:

The main symptoms of Periodontal EDS (pEDS) are severe, intractable periodontitis and tooth recession in childhood or early teens, and/or a lack of attached gingiva. Periodontitis is a severe inflammation of the gums and other structures, which causes early tooth loss. While periodontitis is described in the population at large, including an increased number in those with EDS, with pEDS the tooth loss, gum recession, and inflammation are severe and occur in childhood or adolescence. Often, those with pEDS will have dentures or implants by the time they hit the age of 30.

Those with pEDS may also have discolored lower legs due to having fragile skin that easily tears, bruises, and scars, or due to pre-tibial discolorations (darkened lower legs). As with other forms of EDS, pEDS patients may also experience joint hypermobility, vascular issues, abnormal scarring, stretchy skin, and/or hernias.

DIAGNOSTIC CRITERIA [66]:

To diagnose pEDS, the following formula must be satisfied, at the minimum:

Major Criterion #1 OR Major Criterion #2 + two (2) other Major Criteria + one (1) Minor Criteria

In order to diagnose pEDS, a patient must have either Major Criterion #1 (early onset of severe, intractable periodontitis) or Major Criterion #2 (lack of attached gingiva), plus two (2) other Major Criteria and one (1) Minor Criterion. When diagnostic criteria are met, molecular testing is required to confirm a positive diagnosis.

Major Diagnostic Criteria

  • Severe and intractable periodontitis of early onset (childhood or adolescence)
  • Lack of attached gingiva
  • Pretibial plaques
  • Family history of a first-degree relative who meets clinical criteria

Minor Diagnostic Criteria

  • Easy bruising
  • Joint hypermobility, mostly distal joints
  • Skin hyperextensibility and fragility, abnormal scarring (wide or atrophic)
  • Increased rate of infections
  • Hernias
  • Marfanoid facial features
  • Acrogeria
  • Prominent vasculature

Genetic Markers:

C1R

C1S