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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/
Arch Dermatol. 2007;143(1):124–125. Puchenkova, S. G. (1996). "
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)
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 ...
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
It is much thicker than the epidermis and contains collagen, reticular and elastic fibers, and is vascular. The area where the dermis meets the epidermis is unique in that the epidermis contains ridges at the stratum basale layer which interlocks with the dermal papillae, which are upward projections, like waves, on the uppermost surface of the dermis. The dermis had two sublayers. The papillary layer is in the dermal papillae and near it and is made up of areolar tissue. The reticular layer is dense irregular connective tissue that is found at the basal end of the dermis and contains collagen and adipose
Patients must exhibit 4 for the following: “malar rash, discoid rash on the cheeks, photosensitivity to sunlight, painless mucocutaneous ulcers, nonerosive arthritis of at least two joints, renal dysfunction evidenced as proteinuria or cellular casts, positive serum ANA, neurologic disorder such as seizures or psychosis, serositis as evidenced by pleuritis or pericarditis, hematologic disorders, and immunologic disorders” (Robinson, Sheets Cook, and Currie, p. 632). A patient that does not have four of the qualifying criteria for SLE will be labeled “incomplete” or “latent” SLE (Bernknopf, Rowley, & Bailey,
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.
Emery-Dreifuss muscular dystrophy is a genetic disease. It can express itself in three forms. This forms are:
...s exist as an inherited disease in some families. The majority of case studies show that the patients affected have no family history of the disease.
Tamparo, C. D. & Lewis, M. A. (2011). Diseases of the human body. Philadelphia, PA: F.A. Davis Company.
“Williams Syndrome.” Genetics Home Reference. National Library of Medicine, Mar. 2008. Web. 11 Feb. 2014. .
Describe the pathology/condition from a reputable source. Include its etiology (how, when and why it occurs)
In Ehlers-Danlos syndrome is a group of inherited disorders and the skin, joints, and blood vessels are affected the most. In Taylors case, the connective tissue proper that is defective is: collagen and dens connective tissue. Collagen is responsible for holding the overall structure of connective tissue together and it provides strength and elasticity of body structures.
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