The role of the dental practitioner in diagnosing connective tissue and other systemic disorders: a case report of a patient diagnosed with type III Ehlers–Danlos syndrome

Abstract

An adolescent patient was referred to our specialist oral surgery unit for orthodontic exposure of an ectopic upper canine. The medical history revealed a recent diagnosis of mitral valve prolapse as well as an anecdotal tendency towards regular fainting/lethargy. Examination revealed a hypermobile temporomandibular joint, and an orthopantomogram showed lower supernumerary premolar teeth. Combined, these findings indicated a likely underlying connective tissue disorder, and an indirect referral to a specialist in hypermobility syndromes confirmed a diagnosis of type III Ehlers-Danlos syndrome with postural orthostatic tachycardia syndrome. This case highlights the importance of the dental practitioner in being able to provide holistic care for their patients.

Oro‐dental characteristics in patients with hypermobile Ehlers‐Danlos Syndrome compared to a healthy control group

“…In the present study, a genetic test was performed to improve the homogeneity of the sample and thereby the diagnostic significance of the results. Furthermore, the 26 hEDS patients compose a comparatively large number of subjects in accordance with previous reports, where oro‐dental manifestations of EDS have mostly been based on case reports and case studies and in some cases with undefined EDS subtypes. A previous clinical study, which included various EDS subtypes, did not perform a molecular confirmation of the participating EDS patients, and the number of individuals in each EDS subtype group was relatively small.…”

“…It is advantageous for the dentist to know about specific oro‐dental characteristics in EDS in order to detect an undiagnosed or a mildly affected EDS patient and thereby improve diagnosis and allow a better‐targeted treatment. Previously, only few studies have investigated oro‐dental characteristics clinically and radiologically in hEDS patients, and to our knowledge, measurements of the crowns, roots, and bone level on CBCTs in hEDS patients compared to controls have not previously been described. In the present study, a genetic test was performed to improve the homogeneity of the sample and thereby the diagnostic significance of the results.…”

“…Variations of oral manifestations have previously been reported in EDS in empirical case reports, case studies and control studies and include fragile mucosa, easy wounding, poor wound healing, resistance to local anaesthesia, lack of lingual and labial frenula, early onset of periodontitis, accelerated tooth movement, abnormal tooth morphology and number, increased caries tendency, coronal pulp stones and calcifications . These manifestations have in previous studies been connected to defects of collagens in oral tissues and may compromise the oral health of EDS and/or hamper dental treatment. The reported manifestations are mostly based on case reports and case studies with in some cases undefined EDS subtypes and no molecular confirmation of the participating EDS patients .…”

“…These manifestations have in previous studies been connected to defects of collagens in oral tissues and may compromise the oral health of EDS and/or hamper dental treatment. The reported manifestations are mostly based on case reports and case studies with in some cases undefined EDS subtypes and no molecular confirmation of the participating EDS patients . This may raise uncertainty regarding previously reported oro‐dental characteristics in different EDS subtypes and indicates a need for further investigation.…”

Oral and mandibular manifestations in the Ehlers–Danlos syndromes

“…Both methods produced significant results but demonstrated that the methodology could widely change the prevalence of and therefore usefulness of such a sign. It has also been noted that up to 50% of EDS patients are able to touch their tongue to their nose (Gorlin sign) but it is unclear if the absence of the lingual frenulum has an impact on the presence of this sign [Tanwar et al, ; Awal et al, ].…”