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DEBRA (formerly known as DebRA) is the name of an international medical research charity dedicated to securing effective drug treatments and ultimately cures for every type of epidermolysis bullosa, with national groups in over 40 countries including in the United Kingdom and the United States. [1]
"Debra" is the first name of the daughter of Phyllis Hilton, the original founder of the organisation in the UK, which began as a support group for parents, guardians and carers of other young children with the condition.
Although the backronym of Dystrophic Epidermolysis Bullosa Research Association has been used by DEBRA UK [2] in the past, the organisation provides information, research funding and support for all forms of EB, not just dystrophic, which is one of three main sub-types of the condition; the others being EB simplex and junctional EB.
The DebRA US organisation have continued to use the aforementioned acronym DEBRA for the Dystrophic EB Research Association of America since their formation in 1980.
Epidermolysis bullosa is a genetic condition that in its most severe forms affects all of the body's linings, the skin, the linings of the mouth and oesophagus, and even the eyes. [3] In its most severe forms the linings blister or rip away from the flesh under the lightest of frictions. For example, rolling over in bed can cause skin to tear away from behind the ears, and the sufferer may wake up with up to 30 blisters each morning.
There is no treatment bar the lancing and draining of these blisters to stop their growth. Sufferers of the severest form die prematurely of skin cancer (their life expectancy is usually reduced by 30–40 years); in some, death occurs in infancy. Each day sufferers face a battle against fluid loss and infections due to open wounds. Blistering can also affect inner body linings, such as the mouth and throat. Sufferers of the severest forms have difficulties with eating due to the rawness in their mouths and often have to have a feeding tube fitted.
EB has a number of distinct forms: in the least severe form, blistering is confined to the hands and feet. In more severe cases, the whole body is affected and wounds heal very slowly, giving rise to scarring, physical deformity and significant disability.
DEBRA UK is the national medical research charity and patient support organisation for individuals and families affected by EB. There are at least 5,000 people living with this devastating condition in the UK and 500,000 people worldwide.[ citation needed ]
DEBRA UK was founded in 1978 and provides an enhanced specialist EB nursing service, in partnership with the NHS, to deliver optimal healthcare to children and adults living with EB and community support staff to work directly with families. The charity also commissions research into the condition with the aim of finding effective drug treatments and, ultimately, a cure for EB. DEBRA UK has over 90 charity shops across the country. Donations and proceeds from shops fund services for epidermolysis bullosa affected families and medical research into the condition. [4]
Debra of America was founded in 1980 by Arlene Pessar and her son, Eric Lopez, who was born with epidermolysis bullosa. [5] It is the only U.S. nonprofit organization that provides all-inclusive support to the EB community, through funding research for a cure and by providing free programs and services for those with EB. The mission of debra of America is to improve the quality of life for all people living in the United States with EB, their families, and caregivers, through free programs and services [6] while funding research to find a cure and treatments for EB. [7]
In 2015, Debra of America launched a series of TV and web commercials alongside a campaign titled #ItWontHurtToWatch [8] These commercials, produced by health and wellness advertising agency HAVAS Worldwide Tonic, are intended to spread awareness of the debilitating rare disease.
A list of national groups may be found at DEBRA International. [9]
Epidermolytic ichthyosis (EI), is a rare and severe form of ichthyosis that affects around 1 in 300,000 people. It is caused by a genetic mutation, and thus cannot be completely cured without some form of gene therapy.
Epidermolysis bullosa (EB) is a group of rare medical conditions that result in easy blistering of the skin and mucous membranes. Blisters occur with minor trauma or friction and are painful. Its severity can range from mild to fatal. Inherited EB is a rare disease with a prevalence in the United States of 8.2 per million live births. Those with mild cases may not develop symptoms until they start to crawl or walk. Complications may include esophageal narrowing, squamous cell skin cancer, and the need for amputations.
Hemidesmosomes are very small stud-like structures found in keratinocytes of the epidermis of skin that attach to the extracellular matrix. They are similar in form to desmosomes when visualized by electron microscopy, however, desmosomes attach to adjacent cells. Hemidesmosomes are also comparable to focal adhesions, as they both attach cells to the extracellular matrix. Instead of desmogleins and desmocollins in the extracellular space, hemidesmosomes utilize integrins. Hemidesmosomes are found in epithelial cells connecting the basal epithelial cells to the lamina lucida, which is part of the basal lamina. Hemidesmosomes are also involved in signaling pathways, such as keratinocyte migration or carcinoma cell intrusion.
Jonny Kennedy was a British man who had a rare inherited condition known as dystrophic epidermolysis bullosa. Kennedy ultimately died of skin cancer, a complication of EB.
Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.
Kindler syndrome is a rare congenital disease of the skin caused by a mutation in the KIND1 gene.
Keratin 5, also known as KRT5, K5, or CK5, is a protein that is encoded in humans by the KRT5 gene. It dimerizes with keratin 14 and forms the intermediate filaments (IF) that make up the cytoskeleton of basal epithelial cells. This protein is involved in several diseases including epidermolysis bullosa simplex and breast and lung cancers.
Junctional epidermolysis bullosa (JEB) is an inherited disorder that is also known as red foot disease or hairless foal syndrome. JEB is the result of a genetic mutation that inhibits protein production that is essential for skin adhesion. Therefore, tissues, such as skin and mouth epithelia, are affected. Blisters form over the entire body causing pain and discomfort, and open sores leave newborn foals highly susceptible to secondary infection. The condition can be categorized into two types of mutations: JEB1 and JEB2. JEB1 is found in Belgian Draft horses, as well as other related Draft breeds. In contrast, JEB2 is found in American Saddlebred horses.
Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs.
Genodermatosis is a hereditary skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. There are many different types of genodermatosis, the prevalence of genodermatosis ranges from 1 per 6000 people to 1 per 500,000 people. Genodermatosis has influence on the texture, color and structure of skin cuticle and connective tissue, specific lesion site and clinical manifestations on the body vary depending on the type. In the spite of the variety and complexity of genodermatosis, there are still some common methods that can help people diagnose. After diagnosis, different types of genodermatosis require different levels of therapy including interventions, nursing interventions and treatments. Among that, research of therapy for some new, complex and rare types are still in the developing stage. The impact of genodermatosis not only can be seen in body but also can be seen in all aspects of patients' life, including but not limited to psychological, family life, economic conditions and social activities. Accordingly, the patients need treatment, support and help in these areas.
Jill Kristin Vedder is an American philanthropist, activist, and former fashion model. She is the co-founder and vice chairman of EB Research Partnership, a non-profit organization dedicated to finding a cure for the genetic skin disorder epidermolysis bullosa. Vedder is also an ambassador for Global Citizen and the Vitalogy Foundation.
Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene. It is composed of a triple helical, collagenous domain flanked by two non-collagenous domains, and functions as an anchoring fibril between the dermal-epidermal junction in the basement membrane. Mutations in COL7A1 cause all types of dystrophic epidermolysis bullosa, and the exact mutations vary based on the specific type or subtype. It has been shown that interactions between the NC-1 domain of collagen VII and several other proteins, including laminin-5 and collagen IV, contribute greatly to the overall stability of the basement membrane.
Anchoring fibrils extend from the basal lamina of epithelial cells and attach to the lamina reticularis by wrapping around the reticular fiber bundles. The basal lamina and lamina reticularis together make up the basement membrane. Anchoring fibrils are essential to the functional integrity of the dermoepidermal junction.
Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin disorder. It is also known as bullous congenital ichthyosiform erythroderma of Siemens or ichthyosis exfoliativa. It is a genetic disorder with no known cure which is estimated to affect about 1 in 500,000 people.
Junctional epidermolysis bullosa is a skin condition characterized by blister formation within the lamina lucida of the basement membrane zone.
A coma blister, or coma bullae, is a skin lesion or blister that typically arises due to pressure in an individual with impaired consciousness. They vary in size, ranging from 4 to 5 centimeters in diameter, and may appear hemorrhagic or blood filled. Coma blisters are usually found in the extremities and trunk. These types of blisters have been associated with the overdose of central nervous system (CNS) depressants especially barbiturates, but also tricyclic antidepressants, hypnotics, benzodiazepines, opiates, antipsychotics, and alcohol. However, studies have found that coma blisters are not caused by the toxicity of these drugs, but due to hypoxia and external pressure on the comatose individual's skin from being immobilized. Coma blisters have been frequently found on individuals who have overdosed on drugs, but have also been found on individuals with chronic kidney failure, hypercalcemia, diabetic ketoacidosis, and a variety of neurologic conditions. Coma blisters are more frequent in adults and less common among children as demonstrated by the few cases published in literature.
Mucous membrane pemphigoid is a rare chronic autoimmune subepithelial blistering disease characterized by erosive lesions of the mucous membranes and skin. It is one of the pemphigoid diseases that can result in scarring.
Scioderm, acquired by Amicus Therapeutics in 2015, was a rare disease company focused on developing a treatment for Epidermolysis Bullosa (EB), a rare genetic disease characterized by extremely fragile skin and recurrent blister formation. There are currently no approved therapies for EB. Scioderm was developing a topical treatment known as SD-101, or Zorblisa, aimed at triggering wound reduction and closure, and a reduction in body surface area coverage of blisters and lesions.
Jonathan Pitre was a Canadian from Russell, Ontario, a small town near Ottawa. Pitre was born with a rare genetic mutation called recessive dystrophic epidermolysis bullosa (RDEB), which causes external and internal blistering across the body. His situation gained widespread attention in October 2012 when he was interviewed by the Ottawa Citizen, and he became an ambassador for DEBRA Canada, a charity devoted to the support and awareness of EB. He went to École Secondaire Catholique Embrun (ESCE) where his sister, Noemie, along with teachers and support staff helped spread awareness about his condition.
Birch triterpenes, sold under the brand name Filsuvez, is an extract of birch bark used as a topical medication for the treatment of epidermolysis bullosa. The active ingredients are triterpenes extracted from the outer bark of silver birch and downy birch.
