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Periodontal EDS

Periodontal EDS (pEDS) formally known as EDS VII it has an autosomal dominant inheritance patterns with heterozygous gain-of-function mutations in C1R or C1S. They type of EDS focuses mostly on issues with teeth and the tissue supporting them. 

The minimal criteria to suggest pEDS requires the first or second major criterion, plus at least two other major criteria and one minor criterion. Molecular testing is required to confirm a diagnosis.

Major Criteria:

1. Severe and intractable periodontitis of early-onset (before adulthood);

2. Lack of attached gingiva;

3. Pretibial plaques; and 

4. Family History with a first-degree relative meeting clinical criteria

Minor Criteria:

1. Easy bruising; 

2. Joint hypermobility, mostly distal joints;

3. Skin hyperextensibility and fragility, abnormal scarring (wide or artophic);

4. Increased rate of infections;

5. Hernias;

6. Marfanoid facial features;

7. Acrogeria;

8. Prominent vaculature. 

For more information see The Ehlers-Danlos Society


The 2017 International Classification of the Ehlers–Danlos Syndromes

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