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Analysis And Description Of Ehlers Danlos Syndrome

2197 words - 9 pages

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 (Klaassens and Reinstein, 2012). Type VII C dermatosparaxis is identified by joint laxity, sagging skin, umbilical hernia, facies manifestation, and blue sclera (Colige, Sieron, Li and Schwarze, 1999).
Epidemiology
Worldwide there is an Ehlers-Danlos syndrome prevalence of approximately 1 in 5,000 people. Type I, II, and III are the most common forms of Ehlers-Danlos syndrome, type III hypermobility EDS prevalence is 1 in 10,000 to 15,000 individuals, whereas type I and II generally have a prevalence of 1 in 20,000 to 40,000 individuals (Ehlers-Danlos Syndrome, 2014). Types IV vascular, VI kyphoscoliosis, VIIA-B arthrochalasia, and VII C dermatosparaxis are all very rare. There have been approximately 30 cases of type VIIA-B EDS, and approximately 60 cases of VI EDS. There have been reports that approximately 12 infants and/or children that have type VII C EDS. Type IV EDS is one of the rarer cases and is found approximately in 1 in 250,000 individuals (Ehlers-Danlos Syndrome, 2014).
Genetics
Ehlers-Danlos syndrome is an autosomal dominant disorder (Wenstrup, R.J., 2002). Types I, II, IV, and VIIA-B EDS are autosomal dominant, a single copy of the autosomal dominant EDS gene is required to cause the...

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