Overview

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect the connective tissues in your body, mainly the skin, joints and blood vessels. Connective tissues consist of two components collagen and elastin. Their main function is to provide elasticity and support to the underlying structure in your body. EDS affects the collagen production, so people with EDS have weaker collagen. There are currently 13 types of Ehlers-Danlos syndrome with different clinical manifestations but the three main types are: hypermobile, classic and vascular. The common types usually present clinically with loose or overly flexible joints and fragile skin. The most common type is hypermobile Ehlers-Danlos syndrome. Some types of EDS can have fatal complications like vascular EDS which affects the blood vessels.¹  

Ehlers-Danlos syndrome is characterized by a variety of systemic manifestations. However, less commonly discussed are the oral manifestations of EDS, which are crucial for both diagnosis and management of the condition.

Causes and symptoms of EDS

Ehlers-Danlos syndrome is caused by genetic mutations that affect the collagen production in your body. Different types of mutation have been linked to different types of EDS. Most types of EDS are inherited and passed down from parents to children. There is a broad spectrum of signs and symptoms for different types of EDS, but the most common ones are: ²

• Overly flexible or hypermobile joints: The connective tissues supporting the joints are looser causing the joints to stretch beyond their normal range of motion. Joint pain and dislocations are common among patients with EDS
• Soft stretchy skin: The skin can be very soft and stretches more than usual
• Fragile skin: The skin can bruise easily, and damaged skin doesn’t heal properly leaving scars

These are the general common signs and symptoms of various types of EDS, the oral cavity and the jaws are presented with various signs and symptoms related to EDS. The disturbance in collagen production affects blood vessels, bone, teeth, gum tissue, ligaments and tendons in the head and neck region, this can lead to pain, reduced function, and by default poor oral health-related quality of life.

Oral manifestations of Ehlers-Danlos syndrome

Intraoral and extraoral examinations of patients with EDS can help with the diagnosis of the condition. The most common oral manifestation of Ehlers-Danlos syndrome include the following:^3,4

Extraoral manifestations

• Scars on the forehead and chin
• Hyperelastic skin
• History of repeated dislocations or luxations of the jaw
• Hypertelorism (abnormally increased distance between the eyes)

Intraoral manifestations

• The oral mucosa is fragile and tears easily when touched, oral ulcers are common
• The gingiva is fragile, thin and bleeds easily causing gingival recession and poor haemorrhage control during dental procedures
• Early-onset generalized periodontitis is the most significant manifestation of EDS, and it often leads to early loss of primary and permanent teeth
• Enamel hypoplasia (a defect in the enamel or the outer layer of the tooth that makes it thin or missing) is common
• Deformity of the roots and presence of pulp stones
• Microdontia is sometimes seen (a condition characterized by the presence of abnormally small teeth); this can lead to increased susceptibility to dental caries
• Hypermobile tongue, about 50% of individuals with EDS have what’s called Gorlin’s sign (the ability to touch the tip of their nose with their tongue)

Dental management of patients with Ehlers-Danlos syndrome

It is crucial to take special precautions when treating individuals with EDS in the dental clinic due to all the oral implications of the conditions. Hence, so when treating a patient with Ehlers-Danlos syndrome the following are important things to consider:⁵

• Risk of endocarditis: Bacteria travel from the gum to the bloodstream during tooth extraction, when people have cardiac valve abnormalities (people with EDS can have mitral valve problems), the bacteria attach themselves to the valve and cause inflammation or endocarditis. It was previously recommended to take prophylaxis antibiotics prior to the extraction but that is no longer the protocol. However, you should always contact the patient’s cardiologist before any minor or major procedure
• Post-extraction bleeding: People with vascular EDS could be at higher risk of bleeding after tooth extraction. This can be managed by placing a haemostatic agent (tranexamic acid), careful suturing of the socket, and prescribing mouthwash
• Inadequacy of dental anaesthesia: It was reported in some cases that dental patients with EDS have a reduced effect or inefficacy of dental anaesthesia. In this case, it is better to refer the patient to a maxillofacial surgeon for proper management
• Gum diseases (gingivitis and periodontitis): Some types of EDS can increase your chance of developing periodontal diseases. This can eventually lead to tooth loss if not treated in the early stages. Patients are advised to regularly visit their dentist to monitor their oral health and provide regular scaling and cleaning
• Oral ulcerations: EDS causes the oral mucosa to be very thin which can cause frequent oral ulcers especially if the patient is wearing a denture or an orthodontic appliance. Dentures should be well-fitted, and patients with orthodontic appliances are advised to use protective wax to decrease the risk of ulcers. Regular visits to the dentist are crucial and can prevent further complications and provide better ways of early management

FAQs

At what age can Ehlers-Danlos be diagnosed?

The condition can be presented right after birth or shortly after, so it can be diagnosed during early childhood.

What are the temporomandibular joint (TMJ) symptoms of EDS?

In addition to myalgia (muscle aches and pain), arthralgia (joint pain and stiffness), hypermobility, luxations and dislocations of TMJ can happen frequently.⁶

What are the facial features of someone with EDS?

The vascular type of Ehlers-Danlos syndrome has characteristic facial features including: large prominent eyes, thin nose, small chin, thin lips, lobeless ears and sunken cheeks.⁷

Summary

Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders affecting connective tissues, characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Oral manifestations of EDS are significant and include fragile oral mucosa, gingival hyperplasia, poor wound healing, and increased susceptibility to dental caries due to enamel and dentin defects. Patients may also experience early-onset periodontitis, malocclusion, and TMJ disorders, including joint hypermobility and pain. These oral signs can play a crucial role in the early diagnosis of EDS and necessitate careful dental management to prevent complications. A multidisciplinary approach involving dental and medical professionals is essential for the effective treatment and management of both oral and systemic symptoms of EDS.