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Next of skin: A brief look at Ehlers-Danlos Syndrome

Although I have seen various photos of people with super stretchy skin and incredibly flexible bodies, I never realized that most people who appear to have these seemingly ‘super-human’ abilities actually have a genetically inherited connective tissue disorder called Ehlers-Danlos Syndrome (EDS; sometimes referred to as ‘cutis hyperelastica’). The name of the syndrome comes from the people who were among the first to identify it in the early 1900s (the Danish dermatologist Edvard Ehlers in 1901, and the French physician Henri-Alexandre Danlos in 1908). However, the first description of the syndrome was actually by a Russian dermatologist called Tschernogobow in 1892.

The condition in some EDS sufferers is caused by the individual’s inability to synthesize collagen (a body protein found in human connective tissue) and for some people can be life threatening. Collagen plays a critical role in the strength of human muscles, skin, blood vessels, ligaments, etc. Abnormal collagen production leads to elasticity of human body structure. Unfortunately there is no cure for EDS and the only treatment available is of a supportive nature (e.g., occupational therapy, corrective surgery for identified weaknesses, etc.). According to the Wikipedia entry on EDS:

“Some of the specific mutations involved have been identified and they can be precisely identified by genetic testing; this is valuable due to a great deal of variation in individual cases. However, negative genetic test results do not rule out the diagnosis, since not all of the mutations have been discovered; therefore the clinical presentation is very important. Although the [six] classifications are well defined, it is rare for a case to fit neatly in a single category, and crossover symptoms lead to under-diagnosis or misdiagnosis. Therefore, patients should not rely on the ‘fact’ of having a certain type of EDS if crossover symptoms are evident because of possibly life-threatening symptoms. For example, it is possible for an individual with Classical EDS to exhibit symptoms of hypermobility or vascular EDS”.

Up until 1997, there were 10 types of EDS but a multi-authored paper published in a 1998 issue of the American Journal of Medical Genetics proposed a new descriptive formulation and reduced the number of sub-types to six: (i) classical, (ii) hypermobility, (iii) vascular, (iv) kyphoscoliotic, (v) arthrochalasia, and (vi) dermatosparaxis.

  • Classical: This sub-type affects 1 in 10,000-15,000 people. The defining characteristic is joint hypermobility coupled with less severe skin manifestations. The most common symptoms are joint instability and chronic musculoskeletal pain.
  • Hypermobility: This sub-type affects approximately 1 in 20,000-50,000 people. The most common symptom is mild to severe skin involvement.
  • Vascular: This sub-type affects approximately 1 in 100,000-250,000 people. This sub-type often (i) slim build, (ii) has pale thin translucent skin, (iii) bruises incredibly easily, and (iii) has a characteristic facial appearance (large eyes, small chin, sunken cheeks, thin nose and lips, lobeless ears. Because blood vessels and organs are fragile and liable to rupture, this sub-type is considered one of the more serious.
  • Kyphoscoliotic: This sub-type is very rare (no more than 60 cases reported worldwide). The most common symptom is progressive curvature of the spine, fragile eyes, and severe muscle weakness.
  • Arthrochalasia: This sub-type is rare (no more than 30 cases reported worldwide). The most common symptoms are very loose joints and hip dislocations.
  • Dermatosparaxis: This sub-type is the rarest (about 10 cases reported worldwide). The most common symptom is extremely fragile and sagging skin.

According to a paper by Dr. S. Ainsworth and Dr. P. Aulicino in a 1993 issue of the journal Clinical Orthopaedics, EDS affects both males and females of all socioeconomic status and ethnic backgrounds. X-rays of EDS sufferers tend to be normal. According to Dr. Peter Beighton who has written many papers on EDS over a thirty year period says that parents of EDS children should inform others (e.g., teachers, neighbours), so frequent and/or sizeable bruising is not mistaken for child abuse. In a 2007 issue of the British Medical Journal, Dr. Frances Gawthorp and colleagues featured three different case studies of people with EDS actually written by the person with the disorder. I found the one written by Amanda Sperrit who has the most common form of EDS of particular interest. She said:

“I am 36 years old and have hypermobile Ehlers-Danlos syndrome. As a child I was ‘double jointed’ – able to do party tricks that made people say ‘yuk’. When I was 15 [year old] my hips began to slip spontaneously. My general practitioner said that it was my imagination. Later, at college, I could only shuffle, hips slipping out with every step. I was referred to hospital. The consultants were mystified. They insisted I would grow out of it. Later, I was admitted to hospital and told that I had Ehlers-Danlos syndrome…I was devastated. Since then the symptoms have progressed. I have persistent pains in my shoulders, hips, neck, back, and hands. I have difficulty in standing and walking. I use a stick and occasionally a wheelchair. My grip is poor. I can’t write or even type easily. I have stretchy, fragile skin that doesn’t heal well. I have trouble speaking and swallowing.

I get palpitations and night sweats…Often I am just shown to medical students as an interesting case. Physiotherapists are much better. They allow me to play an active part in my treatment and have taught me to use my muscles to protect my joints. Cannabis was also helpful. I learnt to grow my own and it reduced my dependence on pills. I slept better and I could do more physiotherapy and even a part-time job. I told my doctors; none objected but my secret got out. The police came and took my plants away. A judge regarded my action as wrong doing and left me with a criminal record. How can that be right?

I have tried alternative medicine but always make sure that the practitioners know about the syndrome. The Alexander technique is good for relaxation and posture awareness. A short course of acupuncture also had a positive effect. My present philosophy is, ‘get all the information and advice you can and use what works for you’…I haven’t slept all night for 17 years. I often wake up after a couple of hours, drenched in sweat. I arrange my life so that I can sleep when I need to and have devised ways of getting back into activities such as art, music, and cookery. I help my sister with charity work for severely disabled children. Once more I feel that I am making a contribution to society. The most helpful professionals treat me as a partner in the management of my condition. They listen to the information I discover and support me in my struggle to get the equipment, services, and financial help that I need to make life that bit easier”

This first hand account made me realise that EDS sufferers are far from ‘super-human’ as they are often described. The condition can obviously be devastating and debilitating. As Dr. Gawthorp and colleagues concluded:

“The ramifications of Ehlers-Danlos syndrome are wide and various, and the effects may be disabling and even life threatening. Emerging data suggest that while the vascular form is fortunately rare, the hypermobility form is common but continues to go undetected, or worse still, ignored”.

Dr Mark Griffiths, Professor of Gambling Studies, International Gaming Research Unit, Nottingham Trent University, Nottingham, UK 

Further reading

Ainsworth, S.R. & Aulicino, P.L. (1993). A survey of patients with Ehlers-Danlos syndrome. Clinical Orthopaedics, 286, 250-256.

Beighton P. (1970). The Ehlers-Danlos Syndrome. London: William Heine-mann Medical Books.

Beighton, P. & Bird, H. A. (1993). The Ehlers-Danlos Syndrome. Ehlers-Danlos Support Group.

Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P., Wenstrup, R.J. (1998). Ehlers–Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers–Danlos National Foundation (USA) and Ehlers–Danlos Support Group (UK). American Journal of Medical Genetics, 77, 31–37.

Dereń-Wagemann, I., Kuliszkiewicz-Janus, M., & Schiller, J. (2010). Ehlers-Danlos syndrome. Advances in Clinical Experimental Medicine, 1, 537-542.

Gawthrop, F., Mould, R., Sperritt, A., & Neale, F. (2007). Ehlers-Danlos syndrome. British Medical Journal, 335, 448-450.