{"id":736,"date":"2024-05-01T16:11:21","date_gmt":"2024-05-01T16:11:21","guid":{"rendered":"https:\/\/www.chiesimedical.co.uk\/patient\/?page_id=736"},"modified":"2024-10-15T14:58:39","modified_gmt":"2024-10-15T14:58:39","slug":"epidermolysis-bullosa","status":"publish","type":"page","link":"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/epidermolysis-bullosa\/","title":{"rendered":"Epidermolysis bullosa"},"content":{"rendered":"\n        <div class=\"therapy-areas-inner-page-nav\">\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green \" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/alpha-mannosidosis\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Alpha-mannosidosis<\/h2>\n                            <\/div>\n        <\/a>\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green \" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/fabry-disease\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Fabry disease<\/h2>\n                            <\/div>\n        <\/a>\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green \" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/cystinosis\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Nephropathic cystinosis <\/h2>\n                            <\/div>\n        <\/a>\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green \" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/thalassaemia\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Beta-thalassaemia<\/h2>\n                            <\/div>\n        <\/a>\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green \" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/lebers-hereditary-optic-neuropathy\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Leber hereditary optic neuropathy<\/h2>\n                            <\/div>\n        <\/a>\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green \" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/homozygous-familial-hypercholesterolemia\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Homozygous familial hypercholesterolemia<\/h2>\n                            <\/div>\n        <\/a>\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green \" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/lipodystrophy\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Lipodystrophy<\/h2>\n                            <\/div>\n        <\/a>\n                            \n        <a class=\"therapy-areas-inner-page-nav__item green selected\" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/epidermolysis-bullosa\/\">\n            <div class=\"therapy-areas-inner-page-nav__title\">\n                                    <h2 class=\"title\">Epidermolysis bullosa<\/h2>\n                            <\/div>\n        <\/a>\n        <\/div>\n\n\n\n<h2 class=\"wp-block-heading content-width-full flush-left\">Epidermolysis bullosa<\/h2>\n\n\n\n<p class=\"content-width-full flush-left\">Epidermolysis bullosa is a group of rare skin disorders. It causes the skin to become very fragile and sensitive, and any friction or contact can result in painful blisters. There are several different genes involved in EB and changes to these can mean that you can no longer correctly make important structural components of the skin.<sup>1,2<\/sup><\/p>\n\n\n\n<p class=\"content-width-full flush-left\">There are different types of epidermolysis bullosa and the symptoms can vary between each type:<sup>1,2<\/sup><\/p>\n\n\n\n<ul class=\"content-width-full flush-left wp-block-list\">\n<li>Epidermolysis bullosa simplex: approximately 70% of EB cases<\/li>\n\n\n\n<li>Dystrophic epidermolysis bullosa: 25% of EB cases<\/li>\n\n\n\n<li>Junctional epidermolysis bullosa: 5% of EB cases<\/li>\n\n\n\n<li>Kindler epidermolysis bullosa: a very rare form<\/li>\n<\/ul>\n\n\n\n<p class=\"content-width-full flush-left\">Epidermolysis bullosa is estimated to affect 1 in 17,000 live births and there are currently approximately 5000 people living with the condition in the UK.<sup>3<\/sup><\/p>\n\n\n\n<h3 class=\"wp-block-heading content-width-full flush-left\">Common signs and symptoms of epidermolysis bullosa include:<sup>1,2,4<\/sup><\/h3>\n\n\n\n    <div class=\"causes-and-triggers\">\n                    \n        <div class=\"causes-and-triggers__item\">\n            <svg class=\"causes-and-triggers__icon\">\n                <use xlink:href=\"#blisters\" \/>\n            <\/svg>\n                            <p class=\"h4\">Skin that blisters easily<\/p>\n                    <\/div>\n                    \n        <div class=\"causes-and-triggers__item\">\n            <svg class=\"causes-and-triggers__icon\">\n                <use xlink:href=\"#hand\" \/>\n            <\/svg>\n                            <p class=\"h4\">Blisters on the hands and soles of the feet<\/p>\n                    <\/div>\n                    \n        <div class=\"causes-and-triggers__item\">\n            <svg class=\"causes-and-triggers__icon\">\n                <use xlink:href=\"#skin\" \/>\n            <\/svg>\n                            <p class=\"h4\">Thickened skin that may be scarred or change colour over time<\/p>\n                    <\/div>\n                    \n        <div class=\"causes-and-triggers__item\">\n            <svg class=\"causes-and-triggers__icon\">\n                <use xlink:href=\"#nails\" \/>\n            <\/svg>\n                            <p class=\"h4\">Thickening of the nails<\/p>\n                    <\/div>\n                    \n        <div class=\"causes-and-triggers__item\">\n            <svg class=\"causes-and-triggers__icon\">\n                <use xlink:href=\"#lips\" \/>\n            <\/svg>\n                            <p class=\"h4\">Blisters and ulcers in the mouth, throat and internal organs<\/p>\n                    <\/div>\n                    \n        <div class=\"causes-and-triggers__item\">\n            <svg class=\"causes-and-triggers__icon\">\n                <use xlink:href=\"#tooth\" \/>\n            <\/svg>\n                            <p class=\"h4\">Tooth decay and discolouration<\/p>\n                    <\/div>\n                    \n        <div class=\"causes-and-triggers__item\">\n            <svg class=\"causes-and-triggers__icon\">\n                <use xlink:href=\"#skin-clusters\" \/>\n            <\/svg>\n                            <p class=\"h4\">Increased risk of skin cancer<\/p>\n                    <\/div>\n                    \n        <div class=\"causes-and-triggers__item\">\n            <svg class=\"causes-and-triggers__icon\">\n                <use xlink:href=\"#color-vision\" \/>\n            <\/svg>\n                            <p class=\"h4\">Eye problems including blistering of the eyes<\/p>\n                    <\/div>\n                    \n        <div class=\"causes-and-triggers__item\">\n            <svg class=\"causes-and-triggers__icon\">\n                <use xlink:href=\"#burning-arms-legs\" \/>\n            <\/svg>\n                            <p class=\"h4\">Pain and itching<\/p>\n                    <\/div>\n        <\/div>\n\n\n\n\n<p>The diagnosis of epidermolysis bullosa usually involves a clinical assessment of symptoms, a review of family history and a skin biopsy. A genetic test can also be performed to determine the subtype of the condition.<sup>1,2<\/sup><\/p>\n\n\n\n<p>It is important to note that those living with epidermolysis bullosa may have very different experiences of the disease and symptoms. If you, or anyone you know, is or may be affected by symptoms of epidermolysis bullosa, please speak to a healthcare professional as soon as possible to get appropriate advice.<\/p>\n\n\n\n<p><strong>Further support and resources<\/strong><\/p>\n\n\n\n<p>There are several organisations and charities across the UK and Ireland that aim to raise awareness for patients with rare diseases. Many provide a supportive community in which individuals and their families can both seek and offer support to others facing similar challenges.<\/p>\n\n\n\n<p>For resources to support you with managing your condition:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/cure-eb.org\/\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>Cure EB<\/strong><\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.debra.org.uk\/\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>DEBRA<\/strong><\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.debra.ie\/\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>DEBRA Ireland<\/strong><\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.nhs.uk\/conditions\/epidermolysis-bullosa\/\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>NHS overview of epidermolysis bullosa<\/strong><\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/index.php\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>Orphanet<\/strong><\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.raredisease.org.uk\/\" target=\"_blank\" rel=\"noreferrer noopener\"><strong>Rare Disease UK<\/strong><\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading grey-background full-width-item alignfull\">Patient Resources<\/h2>\n\n\n\n<div class=\"wp-block-media-text is-stacked-on-mobile is-vertically-aligned-top grey-background full-width-item alignfull no-line\"><figure class=\"wp-block-media-text__media\"><img loading=\"lazy\" decoding=\"async\" width=\"523\" height=\"256\" src=\"https:\/\/www.chiesimedical.co.uk\/patient\/wp-content\/uploads\/2024\/05\/image-29.png\" alt=\"\" class=\"wp-image-899 size-full\" srcset=\"https:\/\/www.chiesimedical.co.uk\/patient\/wp-content\/uploads\/2024\/05\/image-29.png 523w, https:\/\/www.chiesimedical.co.uk\/patient\/wp-content\/uploads\/2024\/05\/image-29-300x147.png 300w\" sizes=\"auto, (max-width: 523px) 100vw, 523px\" \/><\/figure><div class=\"wp-block-media-text__content\">\n<p>If you\u2019re a patient, or a carer of a patient, who has been prescribed one of our products, you\u2019ll find information and resources to help manage your condition here<\/p>\n\n\n\n<div class=\"cta left\">\n    \n            <a class=\"button cta-button\" href=\"https:\/\/www.chiesimedical.co.uk\/patient\/patient-resources\/\" target=\"\">\n            Access resources\n            <svg class=\"icon icon-arrow\">\n                <use xlink:href=\"#arrow\" \/>\n            <\/svg>\n\n            <span class=\"line top\"><\/span>\n            <span class=\"line right\"><\/span>\n            <span class=\"line bottom\"><\/span>\n            <span class=\"line left\"><\/span>\n        <\/a>\n    <\/div>\n<\/div><\/div>\n\n\n\n<div class=\"back-to-top\">\n    <ul class=\"back-to-top-inner\">\n        <li>\n            <a class=\"back-to-top-link\">\n                <p>Back to&nbsp;top<\/p>\n            <\/a>\n        <\/li>\n    <\/ul>\n<\/div>\n\n\n\n<div class=\"references-block\">\n    <h4>References<\/h4>\n<ol>\n<li>NHS. Epidermolysis bullosa. Available at: https:\/\/www.nhs.uk\/conditions\/epidermolysis-bullosa\/.<\/li>\n<li>DEBRA. What is EB?. Available at: https:\/\/www.debra.org.uk\/what-is-epidermolysis-bullosa-eb.<\/li>\n<li>NHS. Epidermolysis bullosa service (all ages). Available at: https:\/\/www.england.nhs.uk\/wp-content\/uploads\/2018\/08\/Epidermolysis-bullosa-service-all-ages.pdf.<\/li>\n<li>NHS. Epidermolysis bullosa \u2013 symptoms. Available at: https:\/\/www.nhs.uk\/conditions\/epidermolysis-bullosa\/symptoms\/.<\/li>\n<\/ol>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Epidermolysis bullosa Epidermolysis bullosa is a group of rare skin disorders. It causes the skin to become very fragile and sensitive, and any friction or contact can result in painful blisters. There are several different genes involved in EB and changes to these can mean that you can no longer correctly make important structural components [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":488,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"templates\/rare-diseases.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-736","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/pages\/736","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/comments?post=736"}],"version-history":[{"count":50,"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/pages\/736\/revisions"}],"predecessor-version":[{"id":2080,"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/pages\/736\/revisions\/2080"}],"up":[{"embeddable":true,"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/pages\/488"}],"wp:attachment":[{"href":"https:\/\/www.chiesimedical.co.uk\/patient\/wp-json\/wp\/v2\/media?parent=736"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}