Periodontal Ehlers-Danlos Syndrome (pEDS)

pEDS is a genetic connective tissue disorder that causes severe early-onset periodontitis, lack of attached gingiva, and oral tissue fragility. pEDS also causes pretibial plaques, joint hypermobility, easy bruising, skin fragility, and mild skin hyperextensibility.

pEDS is an ultra-rare disorder that affects less than 1 in 1 million people.

pEDS is caused by differences in the genes called genetic variants. These genetic variants affect the connective tissue, which provides support, protection, and structure throughout the body.

pEDS is caused by genetic variants of these genes:

• C1R 
• C1S 

pEDS is inherited in an autosomal dominant pattern. This means if a person inherits the genetic variant from one of their parents, they will have pEDS. Each child of a parent with pEDS will have a 50% chance of having pEDS.

pEDS may be suspected if a person has:

• Severe periodontitis with extensive periodontal destruction and loss of teeth in childhood or adolescence
• Lack of attached gingiva
• Pretibial plaques
• Easy bruising
• Skin fragility
• Skin hyperextensibility
• Joint hypermobility
• Atrophic scarring

If a person meets the diagnostic criteria for pEDS, genetic testing should be done to confirm the diagnosis. Genetic testing is used to see if a person has the genetic variants that cause pEDS.

To meet the diagnostic criteria for pEDS, a person must meet:

• Major criterion 1 AND two other major criteria AND one minor criterion

OR 

• Major criterion 2 AND two other major criteria AND one minor criterion

Major Criteria 

1. Severe and intractable periodontitis of early onset (childhood or adolescence)
2. Lack of attached gingiva
3. Pretibial plaques
4. Family history of a first-degree relative who meets the clinical diagnostic criteria for pEDS

Minor Criteria

1. Easy bruising
2. Joint hypermobility, mostly distal joints
3. Skin hyperextensibility and fragility, abnormal scarring (wide or atrophic)
4. Increased rate of infections
5. Hernias
6. Marfanoid facial features
7. Acrogeria
8. Prominent vasculature

pEDS is managed by addressing the symptoms a person is experiencing. pEDS can cause a variety of symptoms in many different areas of the body, so people with pEDS may require multiple providers in different specialties to manage their care. Key aspects of care focus on the lifelong management of periodontal disease through intensive oral hygiene management and regular nonsurgical debridement. Each person should work with their care team to develop a care plan that meets their individual needs.

Resources

The Ehlers-Danlos Syndromes, Rare Types 

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement 

Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature 

 The 2017 International Classification of the Ehlers-Danlos Syndromes 

Video Resources

EDS ECHO Summit Rarer Types: Oral Manifestations of EDS, Periodontal EDS (pEDS) – Prof. Kapferer-Seebacher & Dr. Lepperdinger