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. 2009:2009:bcr05.2009.1850.
doi: 10.1136/bcr.05.2009.1850. Epub 2009 Jul 14.

Ehlers-Danlos syndrome

Affiliations

Ehlers-Danlos syndrome

Rajin Choudhury et al. BMJ Case Rep. 2009.

Abstract

We present a clinical case of a 63-year old Caucasian man with Ehlers-Danlos syndrome who was admitted with atrial fibrillation and arterial hypertension. We present this not as a cardiological case but instead address the key questions of differential diagnosis, diagnosis criteria, management and improving the patient's quality of life.

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Figures

Figure 1
Figure 1
(A) Spinal hypermobility with knees locked straight, bends and lays palms on the ground. (B, C) Hyperextensibility of the skin. (D) Hypermobility of joints. (E) Yellow arrows indicate “cigarette paper scars”; white ring marker indicates varicose veins.
Figure 2
Figure 2
(A) Moluscoid fibro-fatty nodules. (B) Discolouration (hyperpigmentated) of shins. (C) Minute granules under the skin of the thorax.
Figure 3
Figure 3
Chest x ray. (A) Postero-anterior view and (B) left lateral view (taken February 2009) with relaxation of diaphragm. (C) Postero-anterior view (taken November 2007) revealed bilateral diaphragmal relaxation (white arrows). Costodiaphragmal sinus is also visible (black arrow).

References

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    1. Wenstrup R, De Paepe A. Ehlers-Danlos syndrome, classic type. GeneReviews [online]. University of Washington; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds (accessed 10 July 2009)
    1. Louise JT, Elizabeth JE, Craig M, et al. The differential diagnosis of children with joint hypermobility: a review of the literature. Pediatric Rheumatology 2009; 7: 1. - PMC - PubMed
    1. Ceccolini E, Schwartz RA. Ehlers-Danlos syndrome. eMedicine Journal [online]. http://emedicine.medscape.com/article/1114004-overview (accessed 10 July 2009)
    1. Royce MP, Steinmann BU. Connective tissue and its heritable disorders: molecular, genetic, and medical aspects. 2nd ed. Wiley-Liss, Inc; 2002: 442–3

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