Analysis and Description of Ehlers danlos Syndrome

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There are more than ten inherited disorders within Elhers-Danlos syndrome. Ehlers-Danlos syndrome (EDS) is a “genetic defect in collagen and connective tissue synthesis and structure” (Schwartz, 2013). EDS affects the skin, joints and blood vessels in most types. In EDS the abnormality of the collagen varies dependent on the type of EDS. Six of the main types of Ehlers-Danlos syndrome include; types I and II EDS which are called the classic type, type III hypermobile EDS, type IV vascular EDS, type VI kyphoscoliosis EDS, type VII A and B arthrochalasia EDS, and type VII C dermatosparaxis EDS (Willacy, 2011).

Type I and II classic EDS are identifiable by the smooth hyperextensible skin, anomalous wound healing, and joint hypermobility (Malfait F, Wenstrup R, De Paepe A, 2007) (see figure 1). Type III hypermobile EDS is the least drastic type of EDS, musculoskeletal complications may occur. The skin is smooth and slightly hyperextensible, bruising is also common. The hypermobile EDS patient suffers from chronic pain associated with dislocation from a slight amount of trauma (Levy, 2004). Type IV vascular EDS is recognizable by the translucent thin skin, easy bruising, facial manifestation (only present for some EDS patients), and finally by the fragility of the arterial, intestinal and (in some cases) the uterine (Pepin and Byers, 1999). Type VI kyphoscoloitic EDS can be identified at birth from severe muscular hypotonia. The skin is hyperextensible, thin scarring, bruising from minimal trauma, and joint laxity (Yeowell and Steinmann, 2000). Type VII A and B arthrochalasia can be identified by joint hypermobility, as well as fragile skin and tissue deformities. The hypermobile joints lead to severe dislocations and paralyzation...

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...ons in the size and distribution of the major collagen fibrils of the dermis. J Invest Dermatol. 108(3):241-7 [PubMed: 9036918] Retrieved from: http://www.ncbi.nlm.nih.gov/pubmed/9036918

TNXB. (2014). Retrieved from: http://ghr.nlm.nih.gov/gene/TNXB

Wenstrup, R. J., Meyer, R. A., Lyle, J. S., Hoechstetter, L., Rose, P. S., Levy, H. P., Francomano, C. A. (2002). Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. Genet. Med. 4: 112-117. [PubMed:12180144] [Full Text: Lippincott Williams & Wilkins]

Willacy, H. (2011). Ehlers-Danlos Syndrome. Retrieved from http://www.patient.co.uk/doctor/ehlers-danlos-syndrome-pro

Yeowell HN, Steinmann B. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. 2000 Feb 2 [Updated 2013 Jan 24]. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2014. Retrieved from: http://www.ncbi.nlm.nih.gov/books/NBK1462/

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