The Six Types Defined By Ehlers Danlos Syndrome

5. What is the prevalence and prognosis of this condition? Is it an inheritable (genetic) condition/disease? (1 point)

SKIN: She has some mild ecchymosis on her skin, and some erythema. She has patches but no obvious skin breakdown. She has some fissuring in the buttocks crease. PULMONARY: Clear to percussion and auscultation bilaterally. CARDIOVASCULAR: No murmurs or gallops noted. ABDOMEN: Soft, nontender, protuberant, no orgonomegaly, and positive bowel sounds. NEUROLOGIC EXAM: Cranial nerves II through XII are grossly intact. Diffuse hyporeflexia. MUSCULOSKELETAL: Erosive, destructive changes in the elbows, wrists, and hands consistent with rheumatoid arthritis. Has bilateral total knee replacements with stovepipe legs, and perimalleolar pitting edema 1 +. I feel no pulses distally in either leg. PSYCHIATRIC: Patient is a little anxious about these new symptoms and their significance. We discussed her situation and I offered her psychologic services. She refused for now.

The disease progression was discovered, annotated and observed over a several periods. The 1st period, the classical period, described the cutaneous disorder

1. What is the common name for Mr. Thomas’ condition? Look this condition up in a reference

A second type of this disorder is called Junctional Epidermolysis Bullosa (JEB). This is an autosomal recessive condition. Unlike EBS this variation of EB is more severe and causes more blistering and it is easier to blister. Mutations caused on the collagen 17 gene which is located on chromosome 10 along with laminin-5 which is located on chromosome 20. Just as there are different variations of EB there are two different forms of JEB. There are Herlitz and non-Herlitz. Herlitz is more severe and often can cause fingers and toes to fuse together. Herlitz JEB affects all the skin not just certain parts such as the knees, feet, hands and

What parts of the body does it affect? How common is it? Are there multiple forms/causes for developing the condition? How long can an individual survive?

It is similar to Type IV in terms of frequency of fractures and the degree of skeletal deformity

Patient reports no weight fluctuations. Denies fatigue, malaise, weakness, sweats, night sweats and chills. Patient reports mild left leg weakness secondary to left tibia fracture June 2012, but ambulates well and is able to be active in school sports, hiking, biking, and swimming. Patient reports working on building strength in left leg through sports and recreational activities. Patient reports asthmatic exacerbations with exercise. Patient reports trying to build lung capacity by running and swimming which exacerbates his asthmatic condition and uses inhalers.

Ehlers-Danlos syndrome (EDS) is a clinical diagnosis and is a connective tissue disorder characterized by a variety of degrees of joint hypermobility, skin extensibility and tissue fragility. If you have the vascular variety of EDS there is a likely 50% chance it could be passed down from parent to child. When trying to clinically define the pain in EDS, the findings are poor. There are nine different types of EDS and each type is distinguished from others but that depends on the system involved. “Most types of EDS are inherited as autosomal dominant trait, although x-linked and autosomal recessive types have been described” (Beighton). EDS type III is the most common disorder with presenting with generalized joint hypermobility

According to Lewis and associates, DM is a chronic disease that affects multiple body systems. For the purpose of this paper, only DM type 2 will be discussed based

This lower extremities are most commonly affected. Atherosclerosis, Buerger disease and chronic venous insufficiency are some of the conditions that are connected with PVD. Atherosclerosis is the accumulation of plaque made of cholesterol, fat, cellular waste, fibrin and calcium which narrows or blocks the peripheral arteries and it is the most frequent condition that causes PAD. Whereas, venous insufficiency is an obstruction in the flow of deoxygenated blood form the lower extremities to the heart. This is due to weakening or damage to the veins. A nurse assessing a patient with venous insufficiency will find skin and angle discoloration, edema in the legs, heaviness and cramping in the legs and pain described as dull and aching. Buerger disease also known as thromboangiitis obliterans is a chronic inflammation of the arteries. This inflammation causes an obstruction in the small and medium arteries of the arms and legs due to blood clot. Buerger disease symptoms are cool clammy skin, reduced or absent sense of heat and cold along with pain in the legs or feet (hopkinsmedicine.org). The nurse will inform the patient that although Buerger disease causes pain in the leg, PAD causes intermittent pain in the leg which this patient is

If untreated, causes weaker muscles, loss of sensation, difficulty in walking and breathing, and more

Musculoskeletal- erosive destructive changes in the elbows, wrist, and hands consistent with rheumatoid arthritis, has bilateral total knee replacements with stovepipe legs and perimalleolar pitting edema 1+. I feel no pluses distally in either leg.

Skeletal deformities (spinal kyphosis and bowed legs ) , often compression of vertebrae , shorting patient's trunk

Urbach- Wiethe Disease was discovered in 1929 by a dermatologist and otorhinolaryngologist, Urbach and Wiethe (Chan, Liu, Hamada, Sethuraman, & McGrath, 2007). According to Chan et al. (2007) Urbach and Wiethe decided to refer to this disorder as lipoidosis cutis et mucosae, but then changed the name to lipoid proteinosis cutis et mucosae due to the physiological aspects of the disorder. However, the common names for this disorder today includes Urbach Wiethe Disease, Lipid Proteinosis, and Lipoglycoproteinosis (Chan et al., 2007).