Medical management update
Ehlers-Danlos syndrome: classifications, oral manifestations, and dental considerations

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Ehlers-Danlos syndrome (EDS) is the name given for 6 types of connective tissue disorders. While the prevalence of this disease is small, it is seen on every continent and affects both sexes and all races. The various types of EDS are reviewed with reference given to both the older Berlin nosology and the newer Villefranche nosology. Phenotypes of EDS vary depending upon which type of collagen is altered, leading the practitioner to the diagnosis before biochemical confirmation is obtained. In this regard, because collagen is present throughout the head and neck, oral and maxillofacial manifestations of the disease are discussed and are readily noticeable to the astute dentist. Specialists in several fields of dentistry are made aware of the complications EDS can pose on treatment, healing, and follow-up care.

Section snippets

Background

The prevalence of EDS is between 1 in 5000 and 1 in 10000, but the epidemiology of the specific types is largely unknown. Ehlers-Danlos syndrome is observed throughout the world, affecting both sexes without racial predisposition.1, 6 Each of the 6 types of EDS is clinically and genetically heterogeneous, resulting from defects in either the synthesis or structure of fibrillar collagen.2, 7 The 3 fundamental mechanisms of disease include deficiencies of collagen-processing enzymes,

Classical type

The classical type of EDS is the most common variety.1 In the Villefranche nosology, this type refers to both the Berlin type I (gravis) and Berlin type II (mitis) forms of the disease. These 2 were combined into 1 type since both involve defects in type V collagen and manifest with similar clinical findings.2 Haploinsufficiency of COL5A1 appears to be frequently at fault in classical-type EDS, though exon-skipping and missense mutations in either COL5A1 or COL5A2 are possible culprits as well.

Oral manifestations

Defects in either collagen-processing enzymes or collagen structure are ubiquitous in all subtypes of EDS, leading to collagen fragility throughout the body. The mouth is not immune to the systemic effects of such collagens (Table II).

Oral mucosal tissues in EDS patients have vascular abnormalities related to an impaired extracellular matrix structure. In a study comparing 12 Berlin type II and III EDS patients with 12 controls, microvascular networks demonstrating increased density and

Dental considerations

Fifty years ago, Pillsbury et al.,67 in their textbook on dermatology, wrote how the fragility of skin and blood vessels in EDS patients leads to scarring and hematoma formation from the slightest trauma. Unfortunately, the same holds true within the oral cavity (Table III).

Bleeding can occur in all types but is commonly associated with vascular, kyphoscoliosis, and Berlin type VIII EDS.2, 15 Excessive gingival hemorrhage has become a commonly accepted phenomenon seen following teeth brushing,

Conclusion

As is evident from these reports of EDS anomalies affecting all of the tissues in the oral cavity, careful decision-making between the oral surgeon, periodontist, endodontist, orthodontist, and restorative dentist is crucial in crafting a treatment plan for the patient. Deciding which teeth are appropriate for restoration versus extraction and whether the TM joint and periodontal tissues of the patient can tolerate surgical procedure are decisions that require the agreement of the entire

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