Working Diagnosis:
Ehlers-Danlos syndrome-Hypermobile Type.

Treatment:
The patient's chronic pain, hypermobile joints, with 9/9 positive Beighton hypermobility criteria, joint dislocations with TMJ dysfunction, poor wound healing, soft, stretchy, and velvety skin along with the patient's family history significant for joint dislocations without trauma suggest a clinical diagnosis of Ehlers-Danlos syndrome-Hypermobile Type.

There was a low suspicion for EDS-vascular type. Therefore, the patient was counseled on the lack of a need for genetic testing as it would not impact treatment. We discussed that vascular fragility and wound dehiscence can be complications of surgery for EDS patients.
The patient was counseled to apply 1-2 pumps of a custom compounded topical cream to her TMJ area 3 to 4 times daily. The topical cream contained: 10% ketoprophen, 5% ketamine, 3% lidocaine, 5% baclofen, 5% diazepam, 5% nortiptyline (in a lipoderm or PLO transdermal agent)
An echocardiography and ultrasound was recommended in five-year intervals to rule out valvular disease and aortic aneurysms.

Outcome:
Currently pain is improving with cream application and since enrollment in Mayo clinic pain therapy clinic, where she is undergoing therapy to help train her mind to recognize the pain in her TMJ as "background noise". Her mom notes improvement in her mouth opening.

Author's Comments:
Retraction of the patient's mandible is most likely a direct result of the EDS genetic defect in her tissues, creating a compressible nature of her autologous fat pad. EDS is typically considered due to laxity of large joints like the shoulder; however, this case demonstrates that smaller joints such as the TMJ also can reveal an EDS diagnosis.
When evaluating an active person for hypermobility, the diagnosis of inherited connective tissue disorders,including Ehlers-Danlos Syndrome, should be considered. There are three major types of EDS: hypermobile, classical, vascular. As a group, these types are most commonly diagnosed with the symptoms of: joint pain/instablity, tissue fragility, and joint dislocation. Some patients present with mitral valve prolapse, “cigarette paper� skin appearance over bony prominences, pes planus. Central to the diagnosis is a detailed history and physical exam.

Editor's Comments:
This case highlights the benefits of taking a careful medical history and performing a thorough physical examination to identify a musculoskeletal disorder with genetic manifestations that additionally impacts sports participation and performance. It is particularly important for the provider to rely upon a broad differential diagnosis so not as to miss a diagnosis such as Ehlers Danlos Syndrome.

It also shows the interesting treatment attempt of using central acting medications in a topical solution.

References:
Schroeder EL, Lavallee, ME. Ehlers-Danlos Syndrome. Current Sports Medicine Report. 2006. Dec 5(6):327-34.

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