Ehlers-Danlos Syndrome Essays - Contortion, Syndromes,

Ehlers-Danlos Syndrome Ehlers-Danlos sydrome (EDS) is a rare inherited group of connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen is a tough fibrous protein that plays an essential role in binding, holding together, strengthening, and providing elasticity to bodily cells and tissues. There are six major types of EDS that I will discuss, however I will only go into detailed discussion on two of the six types of EDS. The two major types of EDS are Classical EDS and Hypermobile EDS. These two types make up 90% of all EDS cases. I will discuss the general symptoms of these two types along with pathology, then diagnostic factors, and the different treatments for this disorder (Smith). EDS can vary in severity and are transmitted as autosomal recessive, autosomal dominant, or X-linked recessive traits. The primary characteristics are hyperextensible skin and joints (Dia. 1-2, pg.6), tendency to bruise easily (Dia. 3, pg.6), reduced wound healing capability, pseudotumors, and ocular defects. Differences within the six types may reflect inter/intra familial variability or genetic heterogeneity. Each type of EDS is classified symptoms and signs that are resulted (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L). 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. Also evident are molluscoid pseudotumors (fleshy lesions associated with scars) frequently found over pressure points (e.g. elbows) and subcutaneous spheroids, which are commonly mobile and palpable on the forearms and shins. Complications of joint hypemobility include sprains, dislocation are common in the shoulder, patella and temporomandibular joints Muscle hypotonia and slower gross motor development also can occur It is inherited in an autosomal dominant manner (Clarke, D., Skrocki-Czerpak, K., Neuman n-Potash, L.). In the Hypermobile type of EDS the joints of the body experience Hypermobility, which is the dominant clinical manifestation. General joint hypermobility affects large (elbows, knees) and small (fingers and toes) joints are evident. Skin is hyperextensible, smooth/velvety, and bruising occurs easily as well. Reoccurring joint dislocations are common, and joints such as shoulder, patella, and temporomandibular joint dislocate frequently. Chronic joint and limb pain is a common amongst individuals with Hypermobile type EDS. Skeletal X-ray are normal, however the anatomical distribution is wide and tender points can sometimes be elicited. To this day, researchers have not identified any biochemical collagen finding. The Hypermobile type of EDS is inherited in an autosomal dominant manner. The other four types of EDS that exist are less common, but have the same general symptoms as Classical and Hypermobile types (e.g. skin hyperextensible and the joint hypermobility). However, these typ es EDS have symptoms that occur in other regions of the body, including the general symptoms. Different protein and enzyme (collagen) disorder cause these other types of EDS. These other types are inherited in an autosomal dominant manner and autosomal recessive manner. There are other types which are very rare, and the molecular basis of which remains unknown, however they do know that these rarities are X-linked (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L). The diagnosis of EDS is made upon clinical ground first, skin hyperelasticity, easy bruising, dystrophic scarring, and joint hypermobility are the cardinal symptoms, which may be present in different combinations and with variable severity. Diagnosis is often impossible to make in infants and small children as abnormal joints hypermobility and skin elasticity are difficult to recognize, however infants may present as floppy infants. In children, joint hypermobility and hypotonia may cause delayed motor dev., problems with walking, and mild motor disturbances and often thought clumsiness. Other characteristics can be hernias, gastrointestinal diverticula, mitral valve prolapse, rectal prolapse, and easy inversion of the upper eyelid. There are laboratory test, which may confirm, or exclude the diagnosis Classical, Vascular, Arthrochalasia, Dermatosparaxis, and Kyphoscoliosis types of EDS. For Hypermobility type EDS there is no biochemical marker and diagnosis is made on the basis of s ymptoms or family history. Electron microscopic examination of