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1XXXXXXXXXX Biology 1406 Class XXXXXX Fall 2010 Dr. Andrei Nesterovitch SclerodermaXXXXXXXXXXBiology 1406 Class XXXXXXFall 2010Dr. Andrei Nesterovitch
2What is scleroderma?From the Greek words “sklerosis,” meaning hardness, and “derma,”meaning skin, scleroderma means hard skin.Scleroderma is a chronic, often progressiveautoimmune connective tissue disorder,in which the body’s immune system attacksits own tissues.
3Scleroderma is in the same category as rheumatoid arthritis, lupus, and multiple sclerosis (MS). Hard, tight skin is usually the extent of the disorder, however, the problem can affect blood vessels and internal organs, such asthe heart, lungs, kidneys, esophagus, andgastrointestinal tract.
4The immune system is thought to stimulate cells called fibroblasts so they produce toomuch collagen forming thick connectivetissue that builds up within the skin andinternal organs.
5In the United States, an estimated 300,000 people have some form of scleroderma.
6CausesThe exact cause is unknown, but scientists are certain that scleroderma is not transmitted from one person to another.Several factors may include genetic makeup,environmental triggers, and hormones.
7Genetic makeupMost persons with scleroderma do not haverelatives with scleroderma, nor do their children.Research indicates there is a “susceptibilitygene” which raises one’s chances of havingscleroderma, but does not cause the diseaseby itself.
8The idea of the susceptibility gene has been confirmed by scientists at the University of Texas Health Science Center (UTHSC) Houston.A research team headedby Dr. Maureen Mayesat UTHSC is a quarter of theway to finding the genes andpathways responsiblefor systemic scleroderma.
9A genetic research technique called a genome- wide association study was used, allowingresearchers to detect genetic variationsassociated with a particular disease.When the important genesare found, scientistscan focus on developinginterventions toblock their activity.
10Environmental triggers If one is genetically predisposed toscleroderma, suspected triggers includeviral infections, certain adhesive and coatingmaterials, and organic solvents such as vinylchloride or trichloroethylene.No environmental agent has been shownto cause scleroderma.
11HormonesBecause of female predominance ofscleroderma, scientists suspect that hormonaldifferences between women and men play apart in the disease.However, the role of estrogen or other femalehormones has not been proven.
12Types of scleroderma There are two basic types of scleroderma— the Localized form and the Systemic form.
14Localized scleroderma Localized types of scleroderma are those limited to the skin and related tissues and,in some cases, the muscle below.Internal organs are not affected by localizedscleroderma, and localized scleroderma cannever progress to the systemic form ofthe disease.
15Often, localized conditions improve or go away on their own over time, but the skin changes and damage that occur whenthe disease is active can be permanent.For some people, localized sclerodermais serious and disabling.There are two generally recognized types oflocalized scleroderma: morphea and linear.
16Morphea comes from a Greek word that means “form” or “structure.” The word refers to localpatches of scleroderma.The first signs of the diseaseare reddish patches of skinthat thicken into firm,oval-shaped areas.
17The center of each patch becomes ivory colored with violet borders The center of each patch becomes ivory colored with violet borders. These patches sweat very little and have little hair growth.Patches appear mostoften on the chest,stomach, and back.Sometimes theyappear on the face,arms, and legs.
18Linear scleroderma is characterized by a single line or band of thickened or abnormally colored skin.Usually, the line runs downan arm or leg, but in somepeople it runs downthe forehead.
19Systemic sclerodermaThis form of the disease not only includes the skin, but also involves the tissues beneath, the blood vessels, and the major organs.Systemic scleroderma is typically broken downinto limited cutaneous scleroderma anddiffuse cutaneous scleroderma.
20Limited cutaneous scleroderma affects the skin only in certain areas: the fingers, hands, face, lower arms, and legs.People with limited disease often have allor some of the symptoms that some doctorscall CREST syndrome, which stands for thefollowing conditions: Calcinosis, Raynaud’s,Esophageal dysfunction, Sclerodactyly,and Telangiectasia.
21Calcinosis is the formation of calcium deposits in the connective tissues. These deposits are typicallyfound on the fingers, hands,face, and trunk, and onthe skin above elbowsand knees.Deposits can break throughthe skin.
22Raynaud’s phenomenon is a condition in which the small blood vessels of the hands or feet contract in response to cold or anxiety.Hands or feet turn white and cold, then blue.As blood flow returns,they become red.
23Fingertip tissues may suffer damage, leading to ulcers, scars, or gangrene.
24Esophageal dysfunction is impaired function of the esophagus that occurs when smoothmuscles in the esophagus lose normalmovement.In the upper and lower esophagus, the resultcan be swallowing difficulties. In the loweresophagus, the result can be chronicheartburn or inflammation.
25Sclerodactyly is thick and tight skin on the fingers, resulting from deposits of collagenwithin skin layers. The condition makes itharder to bend or straighten the fingers.Sclerodactyly alsocauses the skinto appear shinyand darkened,with hair loss.
26Telangiectasia is a condition caused by the swelling of blood vessels, in which smallred spots appear on the hands and face.A “butterfly rash” onthe cheeks is common.
27Diffuse cutaneous scleroderma typically comes on suddenly Diffuse cutaneous scleroderma typically comes on suddenly. Skin thickening begins in the hands and spreads quickly and over much of the body, affecting the hands, face, upper arms, upper legs, chest, and stomach in a symmetrical fashion.Internally, this condition can damage keyorgans such as the intestines, lungs, heart,and kidneys.
28Death occurs most often from pulmonary, heart, and kidney complications. In diffuse cutaneous disease, 5-year survival is 70%,10-year survival 55%.About 10% to 15% ofpeople with sclerodermadevelop severe lungdisease during thecourse of their illness.
29Pulmonary complications Virtually all people with systemic sclerosishave some loss of lung function.Severe lung disease, comes in two forms:pulmonary fibrosis, hardening or scarring oflung tissue because of excess collagen, andpulmonary hypertension, high blood pressurein the artery that carries blood from the heartto the lungs.
30Heart complicationsHeart problems include cardiomyopathy,scarring and weakening of the heart;myocarditis, inflamedheart muscle; andarrhythmia, abnormalheartbeat.
31Kidney complicationsRenal crisis occurs in about 10% of all patients with scleroderma.Renal crisis resultsin severe uncontrolledhigh blood pressure,which can quickly leadto kidney failure.
32Treatment There is no direct cure for scleroderma. Because the cause is unknown, any treatmentis patient-specific and aimed at amelioratingsymptoms of the disease.Example: Patients with Raynaud’s phenomenonmay be treated with agents to increase bloodflow to the fingers.
33Fibrosis of the skin has been treated with varying degrees of success with agents such as d-penicillamine, colchicine, PUVA, Relaxin,and cyclosporine.Because scleroderma isan autoimmune disease,one of the major pillars oftreatment involves the useof immunosuppressiveagents.
34With systemic scleroderma, skin changes may occur suddenly and progressivelyworsen during the first one to two yearsof the disease.After that, changes level off or subside, andsometimes even resolve on their own withouttreatment.When internal organ damage has occurred,treatment for the specific condition is required.
35Pulmonary fibrosis may be treated with drugs that suppress the immune system, along with low doses of corticosteroids.Pulmonary hypertension may be treated withdrugs that dilate the blood vessels, or with newermedications that are prescribed specifically fortreating pulmonary hypertension.
36Treatment for heart conditions related to scleroderma ranges from drugs to surgeryand varies depending on the nature ofthe condition.Treatment for kidney conditions related toscleroderma, includes regular blood pressurechecks and prescribed medications such asACE inhibitors.
37Summary Learning to live with scleroderma can be challenging. There are many areas of one’slife that are changed by the disease.Finding ways to remain active and cope withuncertainty will lead those affected by thecondition to feel better physically andemotionally.
38For more information Scleroderma Foundation www.scleroderma.org The University of Texas Health ScienceCenter at HoustonScleroderma research and DNA registry
39References/Resources National Institute of Arthritis and Musculoskeletaland Skin DiseasesThe University of Texas Health Science Center at Houston.htm?id=medical-genetics/scleroderma.html
40The Mayo ClinicThe Scleroderma FoundationWikipediaJohns Hopkins University
41Web Health Centre_DI0052.aspxWikipediaMedicineNet.com
42Glossary ACE inhibitors- a group of pharmaceuticals that are used primarily in the treatment of hypertension and congestive heartfailure.autoimmune disease- conditions that arise from an overactiveimmune response of the body against substances and tissuesnormally present in the body. (The body actually attacks itsown cells.)colchicine- a medication used in the treatment of rheumaticdisorders, especially gout
43collagen- an insoluble fibrous protein of vertebrates that Is the chief constituent of the fibrils of connective tissuecorticosteroids- any of the steroid hormones made by thecortex (outer layer) of the adrenal glandcyclosporine- medication used in the treatment of psoriasisand other skin disordersd-penicillamine- a degradation product of penicillin used inthe treatment of severe and active rheumatoid arthritis
44fibroblasts- a type of cell that synthesizes the extracellular matrix and collagen, the structural framework for animaltissues, and plays a critical role in wound healing.genome-wide association study- an examination of all ormost of the genes (the genome) of different individuals of aparticular species to see how much the genes vary fromindividual to individual. Different variations are then associatedwith different traits.immunosuppressant- an agent that can suppress or preventthe immune response, used to treat autoimmune disorders
45lupus- a chronic inflammatory disease that can affect various parts of the body, especially the skin, joints, blood, and kidneysmultiple sclerosis (MS)- a debilitating disease in which yourbody’s immune system eats away at the protective sheath thatcovers your nerves, interfering with the communicationbetween your brain and the rest of your bodyPUVA- (psoralen ultraviolet A) a medication used to treatvitiligo (white patches on the skin)
46rheumatoid arthritis- an autoimmune disease that causes chronic inflammation of the jointsRelaxin- a synthetic form of a hormone used to soften skin