The manifestations in EDS continues to be difficult in characterizing and quantifying the prevalence of the many clinical symptoms seen in this syndrome. Study subjects are often diagnosed later in the disease process which causes disproportionate groups with few subjects in the early symptomatic stages. The groups that have been studied demonstrate the following clinical issues. Skin hyper-extensibility is the primary Dermatologic feature seen in EDS. To test the skin doctors find a neutral area with no scarring. The skin is stretched until resistance is noticed and the degree of extension is measured. Skin is considered hyper-extensible if measurements are 1.5cm and beyond (see figure 1) [4,7]. In the musculoskeletal area, doctors tend
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.
1. What is the common name for Mr. Thomas’ condition? Look this condition up in a reference
Areas of red skin that doesn’t go away when pressure applied, sore skin, dry skin, hot or cold areas of skin, blisters or broken skin should all be reported. Discoloured skin should also be reported.
The working diagnosis is that this patient is suffering from Angioedema as a result of Anaphylaxis and developing Urticaria. Angioedema is the swelling of deep layers of the skin due the accumulation of fluid, symptoms of Angioedema include swelling of the eyes, lips, hands and feet.
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?
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
On examination, cervical and lumbar spine is restricted in all planes with increased pain. Muscle guarding is also noted. The patient is not able to heel and toe walk. He is obese and deconditioned. Straight leg raise (SLR) is positive bilaterally. Muscle guarding is noted along cervical paraspinal and trapezius muscle groups bilaterally. Sensation is normal to light touch, pinprick, and temperature along all dermatomes of the bilateral upper extremities, except right C6-8, decreased to
If one has or has had at least four of the preceding conditions, there is a strong chance that they may have lupus. Common symptoms of lupus as described by the Lupus.org website also include edema in the legs, feet, hands, and around the eyes, hair loss, abnormal blood clotting, Raynaud’s phenomenon, and painful or swollen joints. In a 2002 article from the journal Rheumatology about the long term complications of SLE, it is stated that although the
Emery-Dreifuss muscular dystrophy (EDMD) is a rare form of muscular dystrophy. It is another one that only affects boys that appears from childhood to the early teen years and sometimes as late as the age of twenty five. It causes muscles weakness and wasting in the shoulders, upper arms, shins, and often causes problems with the joints becoming tighter. Life threatening heart problems are common and can also affect those who do not have this disease, but simply carry the genes for it. This is a slow progressing disease and often has slow progressing muscle weakness compared to other forms of muscular dystrophy.
Looking back, there were a lot of things that made more sense following my diagnosis with Ehlers-Danlos Syndrome, commonly referred to as EDS. This is a rare genetic condition separated into six different types; Classical, Hypermobility, Vascular, Kyphoscoliosis, Arthrochalasia, amd Dermatospraxis. There are varying degrees of symptoms and seriousness but a common thread is the defect in the collagen proteins which allow the skin, joints, connective tissues, and organs to function properly. EDS can also lead to many other unrelated diseases or disorders due to the malfunction in the body. The varying types and degrees in which EDS manifests itself makes getting a diagnoses difficult, especially at a young age.
What is the most likely causative agent and what type of disease manifestation does this patient have?
Outline the causes, incidence and risk factors of the identified condition and how it can impact on the patient and family
Generalized joint hypermobility (GJH) is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in $4 joints over a period $3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS) may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers–Danlos syndrome. However, within the Ehlers–Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers–Danlos syndrome hypermobility type (EDS-HT). Researchers and clinicians have struggled
Clinical manifestations include fever, myalgia, rash, papules, macules that lead to sloughing and eventually necrosis, the skin can look like a scalding burn, mucosititis, and respiratory distress from interstitial edema, gastrointestinal issues ranging from diarrhea to ulceration and bleeding, ocular issues such as conjunctivitis to inflammation, photophobia up to and including loss of vision (Cooper, 2012). Any body system that has epithelial tissue can be subsequently affected. The further the condition progresses the higher the degree of mortality. Being alert to the possibility of the condition and trying to get as much information from the patient regarding medication usage, to include over the counter and herbal is vital because time is critical factor (Cooper, 2012). Misdiagnosis
I chose my topic because I have a skin condition, and I thought it might be a good idea to research different skin disorders. I have eczema on my foot and it was a very irritable skin disorder to go through. But thanks to the miracle of modern day medicine, all I'm left with is a scar and it is barely noticeable. Since that's my skin disorder I will begin with eczema and work my way down to pressure sores.