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Which genetic disorder
Which genetic disorder
Which genetic disorder
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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...
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...ons in the size and distribution of the major collagen fibrils of the dermis. J Invest Dermatol. 108(3):241-7 [PubMed: 9036918] Retrieved from: http://www.ncbi.nlm.nih.gov/pubmed/9036918
TNXB. (2014). Retrieved from: http://ghr.nlm.nih.gov/gene/TNXB
Wenstrup, R. J., Meyer, R. A., Lyle, J. S., Hoechstetter, L., Rose, P. S., Levy, H. P., Francomano, C. A. (2002). Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. Genet. Med. 4: 112-117. [PubMed:12180144] [Full Text: Lippincott Williams & Wilkins]
Willacy, H. (2011). Ehlers-Danlos Syndrome. Retrieved from http://www.patient.co.uk/doctor/ehlers-danlos-syndrome-pro
Yeowell HN, Steinmann B. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. 2000 Feb 2 [Updated 2013 Jan 24]. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2014. Retrieved from: http://www.ncbi.nlm.nih.gov/books/NBK1462/
To begin we will look at the integumentary system and its entire multitude of functions. The main components of the integumentary system are the skin, hair, nails, glands and nerves. For the purpose of this paper we will focus mainly on the levels of the skin and their functions. While the integumentary
Arch Dermatol. 2007;143(1):124–125. Puchenkova, S. G. (1996). "
There are approximately six types of EDS that have been distinguished, but other types exist that are very uncommon. Classical, Hypermobile, Vascular, Kyphoscoliosis, Arthrochalasia, and Dermatosparaxis. Classical and Hypermobile make up over 90% of all reported cases of EDS. With the Classical type of EDS a person would have hyperextensible (stretchy) skin with widened atrophic scars and joint hypermobility. The skin is smooth and velvety with tissue fragility and easy brusability.
When microdermabrasion removes the outer layer of skin the body then goes into a healing mode that promotes the making of new healthier cells. Microdermabrasion is like when one sustains an injury to his skin and the body sends treatment molecules to heal the damage. Mariane Fernandes conducted an experiment with the aim to evaluate the effects of microdermabrasion on skin rejuvenation. Fernandes stated in her article “Effects of microdermabrasion on skin rejuvenation” in the Journal of Cosmetic and Laser Therapy that “Microdermabrasion treatment promoted skin rejuvenation through an increase in skin thickness due to an increase in epidermal thickness and collagen organization” (Fernandes 26). Acne weakens and thins the skin epidermal layers, causing acne scars. Microdermabrasion heals the weak, thin, and fragile skin, which makes the skin smooth and more resistant to other damaging conditions. Doctor Bruce M. Freedman an aesthetic plastic surgeon and assistant professor of plastic surgery at Georgetown University also analyzed the dermatological changes associated with microdermabrasion in “Clinical and histologic changes determine optimal treatment regimens for microdermabrasion” in the Journal of Dermatological Treatment. Freedman’s experiment also yielded results of an increase of epidermal thickness
Hair is considered one of the components of the integumentary system, along with the skin, nails, glands and nerves. Mammalian hair has many functions including protection from environmental factors and the ability to disperse sweat gland products such as pheromones. Almost every part of the human body is covered by hair except for the palms, hands and bottoms of the feet. On average, every person has about five million hairs; each of these hairs is born from a follicle or tiny tube-like structure that grows into the dermis layer of the skin. Oftentimes this follicle even reaches the subcutaneous layer, which is made of fat and connective tissue. (UXL Complete Health Research, 2001)
Not all attributes are obvious for every situation. The lion's share of instances of OI (conceivably 85-90 %) are created by a predominant change in a quality coding for sort I collagen (Types I, II, III, and IV in the accompanying rundown). Sorts VII and VIII are recently recognized structures that are acquired in a passive way. The qualities bringing about these two sorts have been recognized. Sorts V and VI don't have a sort 1 collagen change, however the qualities bringing about them have not yet been recognized. The general components of each referred to sort of OI are as per the
Creutzfeldt-Jakob is a fatal, progrossive and incurable neurologic disorder which affects the brain in a destructive way. Globally, it attacks one person in every one million people. Specifically, at United State there are more than 300 cases per year. However, it is extremely complicated to diagnose, so the number of cases might get higher in the future. CJD (Creutzfeldt-Jakob disease) symptoms usually occur in later life for women and men whose ages are between 60 and 70. This essay displays a definition of Creutzfeldt-Jakob disease based on its identity, causes, symptoms, risk factors and treatment.
On admission, a complete physical assessment was performed along with a blood and metabolic panel. The assessment revealed many positive and negative findings. J.P. was positive for dyspnea and a productive cough. She also was positive for dysuria and hematuria, but negative for flank pain. After close examination of her integumentary and musculoskeletal system, the examiner discovered a shiny firm shin on the right lower extremity with +2 edema complemented by severe pain. A set of baseline vitals were also performed revealing a blood pressure of 124/80, pulse of 87 beats per minute, oxygen saturation of 99%, temperature of 97.3 degrees Fahrenheit, and respiration of 12 breaths per minute. The blood and metabolic panel exposed several abnormal labs. A red blood cell count of 3.99, white blood cell count of 22.5, hemoglobin of 10.9, hematocrit of 33.7%, sodium level of 13, potassium level of 3.1, carbon dioxide level of 10, creatinine level of 3.24, glucose level of 200, and a BUN level of 33 were the abnormal labs.
Tamparo, C. D. & Lewis, M. A. (2011). Diseases of the human body. Philadelphia, PA: F.A. Davis Company.
Type III of OI makes up 15% of all cases. This is the next in severity after Type II, and the type most known to radiologists and orthopedic surgeons. Two-thirds of these cases will have fractures at birth. There will be severe bone fragility with multiple fractures and deformity that will be progressive. Children with this type seem to have severe dwarfism due to spinal compression fractures and disturbance in growth plates.
Describe the pathology/condition from a reputable source. Include its etiology (how, when and why it occurs)
The second layer of the skin is called the dermis and is also known as the middle layer. The dermis is what holds the body together. The dermis has layers to it as well as the epidermis. There are two layers to the dermis, the papillary layer and the reticular layer. The cells of the dermis are fibroblast, macrophages, mast cells, and scattered white blood cells (wbc’s). the dermis is richly supplied with nerve fibers and BV;s. dermal BV’s is also a part of the integumentary system, dermal BV,s have converging and diverging vessels that ar...
The epidermis, which is the outer layer of the skin, is made up of four to five layers in some parts (Shier, Butler, & Lewis, 2009). In the majority of the areas, just four layers can be differentiated: the stratum basale, stratum spinosum, stratum granulosum, and stratum corneum (p.119). Another layer is the stratum lucidum which can be found in the thicker part of the skin of the palms and ...
Connective tissue and specifically collagen is located throughout the body so the disease is affecting more than just Taylor’s skin and joints. A common problem of Ehlers-Danlos syndrome is that when you get a wound it cannot heal easily because the skin cannot support itself around the damage. A curved spine (scoliosis) fragile and weak blood vessels, bleeding gums, and problems with the lungs, heart valves, or digestion are also symptoms or conditions caused by the
In its nature, collagen is like the backbone of the skin and is responsible for its elasticity and structure. It’s also responsible for replacement of dead skin cells with new ones giving the skin a radiant