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Ehlers-Danlos syndrome

GC: n

S: MAYO - http://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/basics/definition/con-20033656(external link) (last access: 17 May 2017); MEDLP - https://medlineplus.gov/spanish/ehlersdanlossyndrome.html(external link) (last access: 8 March 2018).

N: 1. - Ehlers (pn): Edvard Lauritz Ehlers was a danish dermatologist (1863-1937)
- Danlos (pn): was a french physician and dermatologist (1844 – 1912)
- syndrome (n): “a number of symptoms occurring together," 1540s, from medical Latin, from Greek syndrome "concurrence of symptoms, concourse of people," from syndromos "place where several roads meet," literally "a running together," from syn- "with" + dromos "a running, course". Psychological sense is from 1955.
2. An inherited disorder of the elastic connective tissue characterised by hyperelasticity of the skin, hypermobility of the joints due to extremely lax ligaments and tendons, and poor wound healing. The skin bruises easily. There are subcutaneous tumours, visceral malformations atrophic scars, and calcified subcutaneous cysts.
Mitral valve prolapse is usual and congenital cardiac defects, e.g. atrial septal defect, are common. Described primarily in people of European ancestry. Both sexes affected (some authors report male prevalence); recognized from birth. Exists in 7 forms. Prematurity due to early rupture of fetal membranes is common. Inheritance corresponds to various pathochemical mechanisms in the disturbed collagen synthesis. The disorder is very heterogenous, most forms have an autosomal dominant inheritance but some are autosomal recessive or X-linked. It is believed to affect 1 in 5,000 people.
3. Symptoms:
  • Overly flexible joints: Because the connective tissue that holds joints together is looser, your joints can move far past the normal range of motion. Small joints are affected more than large joints. You might also be able to touch the tip of your nose with your tongue.
  • Stretchy skin: Weakened connective tissue allows your skin to stretch much more than usual. You may be able to pull a pinch of skin up away from your flesh, but it will snap right back into place when you let go. Your skin might also feel exceptionally soft and velvety.
  • Fragile skin: Damaged skin often doesn't heal well. For example, the stitches used to close a wound often will tear out and leave a gaping scar. These scars may look thin and crinkly.
4. Main types of Ehlers – Danlos syndrome (EDS):
  • Hypermobile EDS is the most common type of EDS.
  • Rarer types include classical EDS, vascular EDS and kyphoscoliotic EDS.
  • Classical EDS (cEDS) is less common than hypermobile EDS and tends to affect the skin more.
  • Vascular EDS (vEDS) is a rare type of EDS and is often considered to be the most serious. It affects the blood vessels and internal organs, which can cause them to split open and lead to life-threatening bleeding.
  • Hypermobile EDS (hEDS) is often thought to be the same as or very similar to another condition called joint hypermobility syndrome.
5. Cultural Interrelation: We could mention episode 18 The Dig from the TV series (2004-2012) House M. D. (season 7).

S: 1. y 2. OED - http://www.etymonline.com/index.php?term=syndrome(external link) (last access: 20 March 2017); WNMDT - http://www.goo.gl/tM5zru(external link) (last access: 17 May 2017); http://www.goo.gl/3aCsgP(external link) (last access: 17 May 2017); http://www.goo.gl/sCifVa(external link) (last access: 17 May 2017). 3. MAYO - http://www.goo.gl/dLiQEv(external link) (last access: 17 May 2017). 4. NHS - http://www.nhs.uk/conditions/ehlers-danlos-syndrome/Pages/Introduction.aspx(external link) (last access: 17 May 2017). 5. http://house.wikia.com/wiki/The_Dig(external link) (last access: 8 March 2018).

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