Epidermolysis bullosa

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first_imgDefinitionEpidermolysis bullosa is a group of disorders in which skin blistersform after aminor injury. It is passed in families.Alternative NamesJunctional epidermolysis bullosa; Dystrophic epidermolysis bullosa; Hemidesmosomal epidermolysis bullosa; Weber-Cockayne syndromeCauses, incidence, and risk factorsThere are four main types of epidermolysis bullosa:Dystrophic epidermolysis bullosaEpidermolysis bullosa simplexHemidesmosomal epidermolysis bullosaJunctional epidermolysis bullosaAnother rare type of epidermolysis bullosa called epidermolysis bullosa acquisita, is an autoimmune disorder.Epidermolysis bullosa can vary from minor blistering of the skin to a life-threatening form that affectsother organs. Most types of conditionstart at birth or soon after. It can be hard to identifythe exact type of epidermolysis bullosa a person has.Having a family history of the disease, and especially having a parent with it, is a risk factor.SymptomsDepending on the form of the condition, symptomscan include:Alopecia (hair loss)Blisters aound the eyes and noseBlisters in or around the mouth and throat, causing feeding problems or swallowing difficultyBlisters on the skin as a result of minor injury or temperature changeBlistering that is present at birthDental problems such as tooth decayHoarse cry, cough, or other breathing problemsMilia (tiny white bumps or pimples)Nail loss or deformed nailsSigns and testsYour doctor will look at your skin to diagnoseepidermolysis bullosa.Tests that are used to confirm the diagnosis include:Genetic testingSkin biopsySpecialtests of skin samples under a microscopeSkin tests are used to tell epidermolysis bullosa acquisita in a child from other forms of epidermolysis bullosa.Other tests that may be done include:advertisementBlood test for anemiaCulture to check for bacterial infection if wounds are healing poorlyUpper endoscopy or an upper GI series if symptoms includeswallowing problemsGrowth rate will be checked often for a baby who has or may haveepidermolysis bullosa.TreatmentThe goal of treatment is to prevent blisters from forming and avoiding complications. Other treatment will depend on how bad the condition is.HOME CARETake good care of your skin to prevent infections.Follow your health care providers advice if blistered areas become crusted or raw. You might need regular whirlpool therapy and to apply antibiotic ointments to wound-like areas. Your health care provider will let you know if you need a bandage or dressing, and if so, what type to use.You may need to use oral steroid medicines for short periods of time if you have swallowing problems. You may also need to take medicine if you get acandida (yeast) infectionin the mouth or throat.Take good care of your oral health and get regular dental check ups.It is best to see a dentist who has experience treating people with epidermolysis bullosa.Eat a healthy diet.When you have a lot of skin injury, you may need extra calories and protein to help your skin heal. Choose soft foods and avoid nuts, chips, and other crunchy foods if you have sores in your mouth. A nutritionist can help you with your diet.Do exercises you get from a physical therapist to help keep your joints and muscles mobile. SURGERYSkin grafting inplaces where sores are deepDilation of the esophagus if there is a narrowing (stricture)Repair of hand deformitiesRemoval of any squamous cell carcinoma that developsOTHER TREATMENTSMedicinesthat suppresses the immune system may be usedfor the autoimmune form of the condition.Protein and gene therapy and the use of the drug interferon are being studied.Expectations (prognosis)The outlook depends on the severity of the illness.Infection of the blistered areas (secondary infection) is common.Mild forms of epidermolysis bullosa improve with age.Very serious forms of epidermolysis bullosa have a very high mortality rate.In the severe forms, scarring after blisters form may cause:Contracture deformities (for example, at the fingers, elbows, and knees) and other deformitiesSwallowing problemsif mouth and esophagus are affectedFused fingers and toesLimited mobility from scarringComplicationsAnemiaReduced life span for severe forms of the conditionEsophageal strictureEye problems, including blindnessInfection, including sepsisLoss of function in the hands and feetMuscular dystrophyPeriodontal diseaseSevere malnutrition caused by feeding difficulty, leading to failure to thriveSquamous cell skin cancerCalling your health care providerIf your infant has any blistering shortly after birth, call your health care provider. If you have a family history of epidermolysis bullosa and plan to have children, you may want to have genetic counseling.PreventionGenetic counseling is recommended for prospective parents who have a family history of any form of epidermolysis bullosa.During pregnanc, chorionic villus sampling to test the fetus is available. For couples at high risk of having a child with epidermolysis bullosa, the test can be done as early as week 8 – 10 of pregnancy. Talk to your obstetrician and genetic counselor.advertisementTo prevent skin damage and blistering, it may help to wear padding around injury-prone areas such as the elbows, knees, ankles, and buttocks. Contact sports should be avoided.Patients with epidermolysis bullosa acquisita who are on steroids for longer than 1 month may need calcium and vitamin D supplements to prevent osteoporosis.ReferencesVesicular and bullous diseases. In: Habif TP, ed. Clinical Dermatology. 5th ed. Philadelphia, Pa: Mosby Elsevier;2009;chap 16.Fine JD, Mellerio JE. Epidermolysis Bullosa. In: Bolognia JL, Jorizzo JL, Schaffer JV, et al, eds.Dermatology. 3rd ed. Philadelphia, Pa:Mosby Elsevier; 2012:chap 32.Review Date:11/20/2012Reviewed By:Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, David R. Eltz, Stephanie Slon, and Nissi Wang.last_img

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