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Eb Skin Disease Life Expectancy

What Are The Forms Of Eb

EJ had Epidermolysis Bullosa (EB) – “The Worst Disease You’ve Never Heard Of”

There are many types of EB Simplex. Most are caused by an autosomal dominant genetic mutation that leads to a defective keratin protein. Keratin proteins function as the scaffolding for the skin. When this scaffolding is not formed correctly, the skin is more likely to fall apart and form blisters.

EB Simplex can be split up into two main types, Generalized and Localized. Blistering occurs all over the body in Generalized EB Simplex. Blistering only occurs in areas that receive the most trauma, usually the hands and feet, in the more common Localized EB Simplex.

is an autosomal recessive condition that is caused by mutations in the genes that code for collagen 17 or laminin 5. Collagen 17 and laminin 5 are proteins that help anchor the skin together. Without them, the skin separates easily, causing blisters.

Because this disease is autosomal recessive, parents can carry the genetic mutations and be completely healthy. Affected patients receive one copy of the abnormal gene from each parent .

There are many types of Junctional EB, and all of them cause widespread blistering. Some forms of Junctional EB improve as the patient gets older. A rare form of Junctional EB can be fatal in infancy.

Kindler syndrome is an extremely rare form of EB that has features of skin blistering and sensitivity to the sun.

What Causes Epidermolysis Bullosa

A mutation in one of 18 genes causes EB. People with the disorder have a missing or damaged gene that affects a protein used to make collagen. Collagen gives connective tissues, like skin, their strength and structure. Because of this defect, the epidermis and dermis layers of your skin dont bind together as they normally would. This results in skin thats fragile and blisters and tears easily.

EB is usually an inherited disorder, which means that one parent may have it and pass it down to their children.

In rare cases, EB may also be an acquired autoimmune disorder.

Improving Quality Of Life

Currently there are no clinically approved treatments that fix the underlying biological cause of EB. However, there are many different researchers, drug companies and medical supply companies working to develop better products to improve managing the symptoms of EB.

Products being examined range from better bandages and wraps to ointments and lotions that help the skin heal. Currently there are several clinical trials testing different types of wound dressings and medicines in topical creams to see if they help speed up the healing process of skin on individuals with EB.

In severe cases of EB, doctors may need to cover large open wounds. Often this involves covering wounds with synthetic skin substitutes. However, companies have recently come out with more advanced biological skin substitutes, such as Biobrane®, Integra®, Orcel®, Apligraft® and others. These advanced skin substitutes aim to improve wound healing by using synthetic meshes that cells like to grow on, proteins found in the skin and sometimes even living keratinocytes .

The above are just a few examples of how new technologies and products are being developed that can greatly help improve the quality of life for those afflicted with EB.

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What Are Epidermolysis Bullosa Symptoms And Signs

The commonality in presentation of all the mechanobullous diseases is

Health care professionals most frequently note these findings in areas of friction where shear forces are greatest. Elbows, knees, hands, and feet are generally involved, although EB affects any anatomical area. EB may affect the lining tissues of within the mouth. Although often evident at birth, the condition may occasionally appear in young adults depending on the gene involved. There can be a spectrum of severity so that some affected individuals may have localized disease and reach adulthood with few problems, while others with a more severe form are likely to die during infancy. There are associated conditions in some patients, including muscular dystrophy, pyloric atresia, and reno-urinary defects. In dystrophic epidermolysis bullosa, there is a predisposition to scarring, milia formation, and occasionally squamous cell carcinoma.

Epidermolysis Bullosa: How Could Gene And Cell Therapy Help

Party of Three!: Epidermolysis Bullosa Awareness...

Other related topics:Epidermolysis BullosaSkinRare DiseasesFactsheets

Epidermolysis Bullosa is a genetic disorder that disrupts the way cells and tissues are held together. There are various forms of EB, but a common symptom of all versions of EB is extremely fragile skin that easily tears or develops sores and blisters from light friction, stress and minor injury. Currently there are no cures for EB, though medical research and some treatments currently in clinical trials have shown very promising results. How might gene and cell therapy help?

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What Is The Prognosis Of Epidermolysis Bullosa

    The prognosis of epidermolysis bullosa is almost entirely dependent on the specific structural of the genetically altered protein. That is why it is of the utmost importance to make an accurate diagnosis. Mild localized forms of epidermolysis bullosa simplex exist. Most of these patients can expect to live into adulthood.

    How Is Epidermolysis Bullosa Diagnosed

    Doctors diagnose EB with a test called a skin biopsy. In this test, a doctor removes a small skin sample and studies it under a microscope.

    A genetic test can confirm the type of EB by identifying the defective gene. A prenatal genetic test can confirm if parents are at risk for having a baby with EB.

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    How Does Epidermolysis Bullosa Affect My Body

    Severe cases of EB may cause blisters in your eyes, which can result in vision loss. It may result in severe scarring and deformities of your skin/muscles, making it difficult to move your fingers, hands, feet and joints. Some people with EB are at an increased risk of developing a type of skin cancer called squamous cell carcinoma. Death can sometimes occur during infancy due to severe infection , breathing problems due to blocked airways, dehydration and malnutrition.

    Epidermolysis Bullosa Or Butterfly Skin

    Living with a Disease: EB

    Epidermolysis bullosa encompasses a range of genetic diseases characterised by excessive fragility of the skin and mucous membranes when subjected to minimal trauma. The disease appears at birth or during the first few years of life, and lasts a lifetime. Prognosis is variable, but tends to be serious. Life expectancy is 50 years, and the disease brings with it complications related to infections, nutrition and neoplastic complications. There is currently no effective treatment available.

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    What Are Causes And Risk Factors For Epidermolysis Bullosa

    Since mechanobullous diseases are hereditary, the presence of a family history of this condition is the major risk factor. Mechanobullous diseases are rare. Their prevalence in the U.S. population is estimated to be about eight cases per million. Mechano-bullous diseases have been attributed to at least 1,000 different mutations in 20 separate genes that code for various structural proteins near the junction of the epidermis and the dermis . Some of the proteins involved are keratin, laminin, type VII collagen, type VII collagen, integrins, lectin, desmoplakin, plakophilin, and plakoglobin.

    Spotlight On European Research: A Success Story

    In 2017 a group of researchers and clinicians lead by Professor Michele De Luca reported successfully using gene therapy and lab-grown skin grafts to save a boy that was missing over 80% of his skin. The boy was suffering from JEB caused by mutations in the LAMB3 gene he inherited from both parents. All treatments, including several extreme approaches, had failed and clinicians thought the boy was unlikely to survive. Government authorities granted permission for compassionate use of a preliminary gene therapy treatment that had only been trialled previously in two case studies that looked at only one patient, respectively. The boys parents also agreed to try the procedure, even after being told that the boy might not survive the procedure itself.

    The success of this treatment is very exciting some may even say the outcome was miraculous because it exceeded expectations. Unfortunately, gene therapy treatments like these are not yet clinically approved or widely available. It is also important to realise that such gene therapies must correct problems caused by specific mutated genes. Personalised medicine like this is expensive, requires special facilities and the work of many people. Hopefully treatments like this will become clinically approved, affordable and widely available for many forms of EB.

    Hopefully research will lead to safe, effective and affordable treatments for EB.

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    Researchers Are Making Progress In The Treatment Of Eb

    While EB cannot be cured, researchers are making strides in understanding this rare group of diseases. This understanding has led to new treatments that can provide better relief from the symptoms.

    Youll find more information about possible symptoms at, Epidermolysis bullosa: Signs and symptoms.

    ImagesImages used with permission of the American Academy of Dermatology National Library of Dermatologic Teaching Slides.

    ReferencesFine, JD. Epidermolysis bullosa. In: Bolognia JL, et al. Dermatology. . Mosby Elsevier, Spain, 2008:457-66.

    Fine JD, Bruckner-Tuderman L, et al. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014 70:1103-26.

    Ghosh SK, Bandyopadhyay D, et al. Kindlers Syndrome: A case series of three Indian children. Indian J Dermatol. 2010 55:393-6.

    Hilton L. EBs great hope: Pediatricians respond to the first successful gene therapy treatment. Dermatol Times. 2018 39:1+.

    Penagos H, Jaen M, et al. Kindler syndrome in native Americans from Panama: Report of 26 cases. Arch Dermatol. 2004 140:939-44.

    Seta V, Aucouturier F, et al. Comparison of 3 type VII collagen assays for serologic diagnosis of epidermolysis bullosa acquisita . J Am Acad Dermatol. 2016 74:1166-72.

    Watkins, J. Diagnosis, treatment and management of epidermolysis bullosa. Br J Nurs. 2016 Apr 28 25:428-31.

    How Can I Prevent Epidermolysis Bullosa

    Skin Cancer

    Because its genetic, you cant prevent EB. People with a family history of EB who are thinking about becoming parents may benefit from genetic counseling to decide how to grow their families.

    In addition, experts dont currently know what causes EB acquisita. Therefore, healthcare providers dont know how to prevent it.

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    What Exactly Is Eb

    Epidermolysis bullosa is a group of rare diseases that cause the skin to blister easily.

    Some children develop blisters in the moist tissue that lines the mouth, throat, stomach, intestines, rectum, and other areas of the body. In these areas, the friction caused by swallowing food or having a bowel movement can lead to painful blisters.

    The effects that EB has on a childs life varies considerably. Some children have a mild disease that requires taking precautions to prevent injuries. At the other end of the spectrum, EB can cause lifelong disability that needs ongoing medical care.

    Some types of EB are less likely to cause lifelong disability, but any type of EB can cause severe symptoms, as the following descriptions of the different types of EB indicate.

    Raising Awareness And Clinical Research

    Epidermolysis Bullosa is a rare condition, affecting 25,000 children and adults in the U.S. There is still much more to learn about how we can prevent and manage this disease. Individuals are living longer due to the information we have already learned. If you or someone you love has EB, getting involved by raising awareness and contributing to clinical research studies will ensure future advancements in the options available for this condition.

    To learn more about currently enrolling EB studies at Texas Dermatology, call 888-2395, or click here.

    References:

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    Types Of Epidermolysis Bullosa

    The 3 main types of EB are:

    • epidermolysis bullosa simplex the most common type, which can range from mild, with a low risk of serious complications, to severe
    • dystrophic epidermolysis bullosa which can range from mild to severe
    • a rare form of EB that ranges from moderate to severe

    The type reflects where on the body the blistering takes place and which layer of skin is affected.

    There are also many variants of these 3 main types of EB, each with slightly different symptoms.

    Read more about symptoms of different types of epidermolysis bullosa.

    Study Design And Data Collection

    Behind the Mystery: Epidermolysis Bullosa (EB)

    In this population-based and observational study, all EB-patients registered at our centre from 01-Jan-1988 until 31-Dec-2018 were included. EB-patients referred to our expertise centre by specialists from foreign countries were excluded in order to provide accurate epidemiological outcomes of EB in the Netherlands. The diagnosis of EB was established based on clinical features, skin biopsies for immunofluorescence antigen mapping and transmission electron microscopy , and in particular mutation analysis, which over the years evolved from sanger sequencing of single candidate genes to next-generation sequencing of multiple EB-related genes in parallel. The subclassification of EB was conducted according to the latest consensus report. The medical records of the EB-patients were systematically collected during the investigated time period and retrospectively examined. This study was carried out in accordance with the principles of the Declaration of Helsinki.

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    What Are The Clinical Features Of Dystrophic Epidermolysis Bullosa

    DEB Subtypes
    Dominant generalised EB
    • Generalised blistering present at birth
    • Blistering becomes localised to hands, feet, elbow or knees as the child grows older and in response to friction
    • Small white spots called milia are often present at healed but scarred sites
    • Bart syndrome: aplasiacutis, lesions in the mouth, and abnormal nails due to abnormal type 7 collagen in anchoring fibrils
    • May also get blistering of the oesophagus
    Generalised severe recessive EB Previously known as Hallopeau-Siemens and Generalised intermediate RDEB
    • May present with severe blistering or mild disease
    • Generalised severe blistering is more common and involves large areas of skin and mucous membranes
    • Blisters heal but with scarring and deformity causing limited movement as fingers and toes may be fused together
    • Complications such as infection, malnutrition and dehydration may cause death in infancy
    • Those that survive are at great risk of developing potentially dangerous squamous cell carcinoma within chronic EB wounds. SCC look and behave differently in EB from in unaffected individuals. They are found on covered sites and grow rapidly. They present as ulcerated or keratoticnodules and plaques.
    Recessive dystrophic epidermolysis bullosa

    What Tests Do Health Care Professionals Use To Diagnose And Assess Epidermolysis Bullosa

    In an infant in whom this diagnosis is considered, it is vital to exclude other treatable diseases first. In addition, it is often impossible to come to an accurate diagnosis based on the clinical appearance of the patient. It is often necessary to involve a dermatologist with special expertise in pediatrics to evaluate the affected infant. Special tests on the skin biopsy specimens are required to determine which component of the skin is defective. Immunofluorescence mapping and electron microscopic evaluation may be necessary to pinpoint the precise structural defects. Newly available genetic tools can detect the presence of defective genes in the patient and family members. In families with a history of mechanobullous disease, prenatal testing is available. Such tests are likely to be available only at university medical centers.

      Since the problem in all mechanobullous diseases is an absent or defective structural protein, there is no cure. At this time, there is also no specific treatment other than supportive care. The care would be similar to that given in a burn center environment except that the condition never resolves. Pain, metabolic abnormalities, and infection are major problems in these patients. Preventing erosions is a constant challenge. Occasionally, skin cancer can develop at the site of erosions.

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      How Is Eb Treated

      Many patients with mild forms of EB require little or no treatment. In fact, people with the most common form of EB, the Weber-Cockayne Subtype of EB Simplex, rarely seek medical help.

      However, patients with severe forms of EB require hours of daily intense care that is usually provided by their families. The care given to these patients is similar to the care provided for burn victims blisters are wrapped in dressings and the dressings are changed daily.

      Currently, treatment for severe forms of EB is focused on:

      • Promoting wound healing
      • Protecting the skin from trauma
      • Attending to nutritional needs
      • Providing psychological support for the family

      With the more severe forms of EB, it is often necessary to have several physicians involved in the care of the patient, including a

      Additional help is provided by , and , and other health care professionals. This multidisciplinary approach is needed for children with severe EB.

      Charities And Support Groups

      Brody Curtis with skin condition epidermolysis bullos left in constant ...

      If your child is diagnosed with EB, it can be a frightening and overwhelming experience. You’ll probably want to find out as much as possible about the condition and available treatments.

      DEBRA is a national charity that provides help, advice and support for people in the UK living with EB.

      DEBRA International is a worldwide network of national groups working on behalf of people affected by EB.

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      What Is Epidermolysis Bullosa

      Depending on the area of skin where blistering occurs, the disease can be divided into four main groups, and subsequently 32 subgroups.

      • EB simplex: blisters appear between the skin layers. Generally, it has a good prognosis and heals without scarring.
      • Dystrophic EB: blisters are subepidermal. They are the most dangerous and with highest rate of morbidity because when they heal blisters cause scarring and retraction.
      • Mixed EB.

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