Periodontal Ehlers-Danlos syndrome (pEDS) is a heritable connective tissue disorder that causes severe, early-onset periodontitis, leading to the premature loss of teeth. Thin, fragile gums and lack of attached gingiva lead to gum recession in pEDS. pEDS also causes other symptoms, such as easy bruising, discoloration of the shins, and joint hypermobility.
pEDS is an ultra-rare disorder that affects less than 1 in 1 million people.
Key signs and symptoms of pEDS include:
You can learn more about the features of pEDS by selecting different body parts from the menu.
Genetic Basis
pEDS is caused by genetic variants in these genes:
Humans have two copies of each gene because we inherit one from each parent. People with pEDS typically have a pathogenic variant in one copy of either the C1R or C1S gene.
Inheritance
pEDS is inherited in an autosomal dominant pattern. This means it can be passed on and inherited equally by males and females. People with pEDS have a 50% chance of passing the condition on to each child they have.
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 Criteria
Minor Criteria
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 excellent oral hygiene and regular visits with a periodontist starting in early childhood. Each person should work with their care team to develop a care plan that meets their needs.
Signs and Symptoms
Mouth and Throat
Skin
Musculoskeletal
Cardiovascular
Gastrointestinal
Immune System
Nervous System
How to Use:
Explore the features of pEDS by selecting different body parts from the menu.
Please note that pEDS affects each person differently. The symptoms listed here may not affect everyone with pEDS, and people with pEDS may have other symptoms that are not listed on this page. This page is intended to provide information about symptoms that may occur in individuals with pEDS and does not constitute medical advice. Always consult a healthcare professional for personalized medical guidance.
Select from the list below to learn how pEDS can affect the mouth and throat.
The attached gingiva is the part of the gums that is attached to the teeth and underlying bones. It supports and protects the teeth by preventing plaque formation and gum recession. People with pEDS do not have attached gingiva on any of their teeth, which makes make them prone to gum recession. Generalized lack of attached gingiva is a feature unique to pEDS.
Periodontitis, also called gum disease, is an infection that causes inflammation of the soft tissues around the teeth. It destroys the bones that support the teeth and can lead to tooth loss. In general, periodontitis is uncommon in people under 30. However, it is often present by the teen years in people with pEDS. The risk of periodontitis can be reduced through excellent dental hygiene with an electric toothbrush and dental hygienist appointments every three months.
Gum recession, or gingival recession, occurs when the pink tissue around the teeth pulls back or wears away. This exposes more of the teeth and their roots, leaving them vulnerable to decay, damage, infection, and tooth loss. Thin, fragile gums and lack of attached gingiva lead to gum recession in pEDS.
Periodontitis often leads to premature tooth loss in pEDS. Complete tooth loss is reported at a mean age of 20 in pEDS. It is important to recognize that someone has pEDS because improved dental hygiene in childhood can prevent complete tooth loss.
People with pEDS typically have very thin and fragile gums, which contributes to gum recession in pEDS.
Gum inflammation, also called gingivitis, is common in people with pEDS. In pEDS, even mild plaque build-up can cause gum inflammation and pain.
Most people with pEDS report that their gums frequently bleed when they brush their teeth.
People with pEDS may experience mouth pain due to the dental features of this condition.
Some people with pEDS report changes in their voice, including being hoarse and having a high-pitched voice.
Select from the list below to learn how pEDS can affect the skin.
Most people with pEDS report that they bruise easily, particularly on the shins. Bruises may also take longer to fade. Easy bruising is often present starting in early childhood in people with pEDS.
Pretibial plaques are thick, brown patches of skin that may look like permanent bruises on the lower legs, most commonly the shins.
Skin hyperextensibility means the skin can be stretched beyond the normal range.
People with pEDS may have thin, translucent skin, which can make their veins appear more visible. This may be harder to see on brown or black skin.
People with pEDS may have fragile skin that is prone to tearing.
Some people with pEDS find that their wounds tend to heal slowly.
Some people with pEDS have unusual scars, including widened and atrophic scars.
Atrophic scars are scars that have widened and become thin, causing them to appear sunken.
Some people with pEDS notice signs of skin aging earlier than usual, particularly on their hands and feet. Premature aging of the skin is called acrogeria.
Select from the list below to learn how pEDS can affect the musculoskeletal system.
Joint hypermobility means a joint has a greater range of motion than usual. In pEDS, joint hypermobility is most common in the fingers, elbows, and knees.
People with pEDS may experience joint pain, typically starting in early adulthood.
Scoliosis is a sideways curve in the spine that gives the spine an “S” or “C” shape.
A joint is the point where two or more bones connect. Joint instability means the bones of a joint are not held in place securely. This can lead to joint subluxations, dislocations, sprains, and other injuries.
A joint dislocation occurs when two bones at a joint separate completely and are no longer touching. A subluxation is a partial dislocation in which two bones at a joint are out of place but are still touching each other.
Select from the list below to learn how pEDS can affect the cardiovascular system.
Varicose veins are swollen, twisted veins just under the skin. These blue and purple veins are common in the legs as people age, particularly in women after pregnancy. Varicose veins may appear earlier in life in people with pEDS.
Arteries are tubes that carry blood from the heart to the rest of the body. An arterial aneurysm is a bulge or swelling in the wall of an artery. Aneurysms occur when blood flow puts pressure on a weak spot in the blood vessel wall and causes it to swell. If an aneurysm swells too much, it can rupture (burst), which is a life-threatening medical emergency.
An arterial dissection is a tear in the inner wall of an artery. Blood from the artery flows into the tear and separates the layers of the artery wall, creating a weak spot that may lead to a life-threatening leak.
Arterial aneurysms and dissections have been reported in pEDS, but they are considered a rare feature of the condition. An arterial dissection can be life-threatening and should be treated as a medical emergency.
Select from the list below to learn how pEDS can affect the gastrointestinal system.
A hernia occurs when an internal organ pushes through a weak spot in the tissues that support it. This creates an outward bulge, typically in the abdomen or groin.
An organ rupture is a tear in the wall of an organ. There have been reports of organ ruptures in people with pEDS, including ruptured lungs and gastrointestinal organs. However, this is considered a rare feature of pEDS.
Select from the list below to learn how pEDS can affect the immune system.
People with pEDS may have an increased risk of recurrent infections.
Select from the list below to learn how pEDS can affect the nervous system.
Most people with pEDS have white matter abnormalities in the brain, known as leukodystrophy. Though leukodystrophy is consistently reported on brain MRIs in pEDS, it is not typically associated with distinct neurological symptoms. Some people have reported migraines, poor memory, and loss of concentration. However, it is not certain that this is related to leukodystrophy.
Please note that pEDS affects each person differently. The symptoms listed here may not affect everyone with pEDS, and people with pEDS may have other symptoms that are not listed on this page. This page is intended to provide information about symptoms that may occur in individuals with pEDS and does not constitute medical advice. Always consult a healthcare professional for personalized medical guidance.
The Ehlers-Danlos Syndromes, Rare Types (Brady et al., 2017)
https://doi.org/10.1002/ajmg.c.31550
The 2017 International Classification of the Ehlers-Danlos Syndromes (Malfait et al., 2017)
https://doi.org/10.1002/ajmg.c.31552
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement (Kapferer-Seebacher et al., 2016)
https://doi.org/10.1016/j.ajhg.2016.08.019
Periodontal Ehlers-Danlos Syndrome (Kapferer-Seebacher et al., 2021)
https://www.ncbi.nlm.nih.gov/books/NBK572429/
Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome (Lepperdinger et al., 2022)
https://doi.org/10.1111/jcpe.13698
Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome (Angwin et al., 2023)
https://doi.org/10.3389/fgene.2023.1136339
Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature (Kapferer-Seebacher et al., 2021)
https://doi.org/10.1038/s41436-020-00985-y
