A Woman with Multiple Joint Dislocations
Am Fam Physician. 2018 May 15;97(10):673-674.
A 65-year-old woman was admitted to the hospital with a left elbow fracture after a fall. She had a history of recurrent joint dislocations since childhood and orthopedic procedures on several joints. When she was younger, she could rest her palms on the floor in a standing position while flexing the trunk forward with knees fully extended.
On physical examination, the patient was in no acute distress other than pain in her elbow. She could touch her forearm with passive flexion of her right thumb. Hyperelasticity of the skin (Figure 1) was noted.
Based on the patient's history and physical examination findings, which one of the following is the most likely diagnosis?
A. Cutis laxa.
B. Ehlers-Danlos syndrome.
D. Pseudoxanthoma elasticum.
The answer is B: Ehlers-Danlos syndrome. This syndrome encompasses a group of distinct inherited connective tissue disorders.1 Marked skin hyperelasticity, widened cutaneous atrophic scars, and generalized joint hypermobility are features of classic Ehlers-Danlos syndrome. Easy bruising, subcutaneous spheroids, and molluscoid pseudotumors may also occur.
In the vascular form of Ehlers-Danlos syndrome, the skin is thin and translucent with visible underlying vessels, but not hyperelastic. Possible complications of vascular Ehlers-Danlos syndrome include aortic dissection, rupture, and aneurysms.2 Other forms of the syndrome are hypermobile, kyphoscoliotic, arthrochalasic, cardiovalvular, myopathic, periodontal, musculocontractural, dermatosparactic, and brittle cornea syndrome. Kyphoscoliotic Ehlers-Danlos syndrome is an autosomal recessive condition, whereas the other forms are autosomal dominant.
Referencesshow all references
1. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet. 1998;77(1):31–37....
2. Sobey G. Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child. 2015;100(1):57–61.
3. Berk DR, Bentley DD, Bayliss SJ, Lind A, Urban Z. Cutis laxa: a review. J Am Acad Dermatol. 2012;66(5):842.e1–842.e17.
4. Adil H, Walsh S. Elastoderma. Am J Dermatopathol. 2015;37(7):577–580.
5. Bercovitch L, Terry P. Pseudoxanthoma elasticum 2004. J Am Acad Dermatol. 2004;51(1 suppl):S13–S14.
This series is coordinated by John E. Delzell Jr., MD, MSPH, Associate Medical Editor.
A collection of Photo Quiz published in AFP is available at https://www.aafp.org/afp/photoquiz.
Previously published Photo Quizzes are now featured in a mobile app. Get more information at https://www.aafp.org/afp/apps.
The editors of AFP welcome submissions for Photo Quiz. Guidelines for preparing and submitting a Photo Quiz manuscript can be found in the Authors' Guide at http://www.aafp.org/afp/photoquizinfo. To be considered for publication, submissions must meet these guidelines. E-mail submissions to firstname.lastname@example.org.
Copyright © 2018 by the American Academy of Family Physicians.
This content is owned by the AAFP. A person viewing it online may make one printout of the material and may use that printout only for his or her personal, non-commercial reference. This material may not otherwise be downloaded, copied, printed, stored, transmitted or reproduced in any medium, whether now known or later invented, except as authorized in writing by the AAFP. Contact email@example.com for copyright questions and/or permission requests.
Want to use this article elsewhere? Get Permissions