Periodontal EDS

Periodontal Ehlers-Danlos syndrome (pEDS), also known as EDS type 8, is the rarest form of EDS. It is characterized by periodontitis (serious gum inflammation), which eventually leads to the loss of teeth.

Periodontitis in pEDS patients has an early onset, appearing in puberty. Affected individuals may lose their teeth before age 30.

What causes pEDS?

pEDS is genetically diverse, and the underlying cause is not well understood. Modifications of a gene locus on chromosome 12 have been linked to pEDS, but specific gene mutations leading to the condition have not been identified. One study detected mutations in a genetic region that provides instructions to build parts of the complement system. The complement system is part of the immune system. Mutations that lead to immune system problems could explain the inflammation-related symptoms seen in pEDS patients.

How is pEDS inherited?

pEDS is inherited in an autosomal dominant manner. Every individual has two copies of each gene, one they inherit from the mother and the other from the father. Dominant inheritance means that one mutated copy of a gene is sufficient to cause disease. A parent with pEDS has a 50% chance of passing the mutation to the next generation.

What are the symptoms of pEDS?

Symptoms are individual and vary from one person to another.

Common symptoms of pEDS include:

  • periodontitis
  • short stature
  • hyperpigmented skin spots
  • atrophic scars
  • hyperextensible skin
  • hyperflexible joints
  • microdontia (smaller than regular teeth)
  • gum overgrowth
  • shrinking of gum ridges
  • failure to develop permanent teeth

How is pEDS diagnosed?

The diagnosis of pEDS usually involves a physical exam, assessment of the patient’s medical history, and a detailed analysis of the symptoms.

How is pEDS treated?

As with other types of EDS, there is currently no cure for pEDS. Treatments focus on managing the symptoms of the disease, especially dental anomalies.


Last updated: Nov. 8, 2019


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