Junctional Epidermolysis Bullosa (medicine)
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Junctional Epidermolysis Bullosa (medicine)
Junctional epidermolysis bullosa is a skin condition characterized by blister formation within the lamina lucida of the basement membrane zone. Signs and symptoms People with the condition experience very fragile skin, with blisters and skin erosion occurring in response to relatively benign trauma. Blisters may form all over the body, including the mucous membranes. Chronic scarring can lead to the formation of granulation tissue, which may bleed easily, predisposing to infection. Hands and fingers may be affected, as well as various joints. Pathophysiology α6β4 integrin is a transmembrane protein found in hemidesmosomes. As a heterodimer molecule containing two polypeptide chains its extracellular domain enters the basal lamina and interacts with type IV collagen suprastructure containing laminins (laminin-5), entactin/nidongen or the perlecan. on the extracellular surface of the hemidesmosome, laminin-5 molecules form threadlike anchoring filaments that extend from the in ...
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Lamina Lucida
The lamina lucida is a component of the basement membrane which is found between the epithelium and underlying connective tissue (e.g., epidermis and dermis of the skin). It is a roughly 40 nanometre wide electron-lucent zone between the plasma membrane of the basal cells and the (electron-dense) lamina densa of the basement membrane.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology'' (10th ed.). Saunders. Page 5. . Similarly, electron-lucent and electron-dense zones can be seen between enamel of teeth and the junctional epithelium. The electron-lucent zone is adjacent to the cells of the junctional epithelium and might be considered a continuation of the lamina lucida as both are seen to harbour hemidesmosomes. However, unlike the lamina densa, the electron-dense zone adjacent to enamel show no signs of hemidesmosomes. Some theorize that the lamina lucida is an artifact created when preparing the tissue, and that the l ...
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Epidermolysis Bullosa
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. EB is due to a mutation in at least one of 16 different genes. Some types are autosomal dominant while others are autosomal recessive. The underlying mechanism is a defect in attachment between or within the layers of the skin. Loss or diminished function of C7 leads to weakness in the structural architecture of the dermal–epidermal junction (DEJ) and mucosal membranes. There are four main types: epidermolysis bullosa simplex (EBS), dystrophic epidermolysis bu ...
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Genodermatoses
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.Fields, D. (2019, June). Types of Genodermatoses. Retrieved September 08, 2020, from https://www.news-medical.net/health/Types-of-Genodermatoses.aspx 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.Fondation René Touraine. (n.d.). Genodermatoses & Rare Skin Disorders - a publ ...
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ILDS
The International League of Dermatological Societies (ILDS) is a non-governmental organization that works closely with the World Health Organization. It was founded in 1935, but because of World War II no congresses were held until 1952. It is governed by the International Committee of Dermatology. The ILDS is the parent organization of the International Foundation for Dermatology, founded in 1987. After the publication of ICD-10, the ILDS produced a series of compatible extensions for use in dermatology Dermatology is the branch of medicine dealing with the skin.''Random House Webster's Unabridged Dictionary.'' Random House, Inc. 2001. Page 537. . It is a speciality with both medical and surgical aspects. A dermatologist is a specialist medica .... References External links Official site HistoryInternational Foundation for DermatologyApplication to Dermatology of International Classification of Disease (ICD-11) Organizations established in 1935 Dermatology organi ...
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Skin Lesion
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. Conditions of the human integumentary system constitute a broad spectrum of diseases, also known as dermatoses, as well as many nonpathologic states (like, in certain circumstances, melanonychia and racquet nails). While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described. Classification of these conditions often presents many nosological challenges, since underlying causes and pathogenetics are often not known. Therefore, most current textbooks present a classification based on location (for example, conditions of the mucous membrane), morphology ( chronic blistering conditions), cause ( skin conditions ...
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Junctional Epidermolysis Bullosa (veterinary Medicine)
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. Breeds affected JEB has documented in Belgian drafts, American Cream Draft, Breton drafts, Comtois, and American Saddlebreds. Of these horses, 12% of Belgians and 4% of Saddlebreds are thought to carry the disorder. Humans JEB also affects the human population. Symptoms are closely related to those that are seen in ...
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Epidermolysis Bullosa
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. EB is due to a mutation in at least one of 16 different genes. Some types are autosomal dominant while others are autosomal recessive. The underlying mechanism is a defect in attachment between or within the layers of the skin. Loss or diminished function of C7 leads to weakness in the structural architecture of the dermal–epidermal junction (DEJ) and mucosal membranes. There are four main types: epidermolysis bullosa simplex (EBS), dystrophic epidermolysis bu ...
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Epidermis
The epidermis is the outermost of the three layers that comprise the skin, the inner layers being the dermis and hypodermis. The epidermis layer provides a barrier to infection from environmental pathogens and regulates the amount of water released from the body into the atmosphere through transepidermal water loss. The epidermis is composed of multiple layers of flattened cells that overlie a base layer ( stratum basale) composed of columnar cells arranged perpendicularly. The layers of cells develop from stem cells in the basal layer. The human epidermis is a familiar example of epithelium, particularly a stratified squamous epithelium. The word epidermis is derived through Latin , itself and . Something related to or part of the epidermis is termed epidermal. Structure Cellular components The epidermis primarily consists of keratinocytes ( proliferating basal and differentiated suprabasal), which comprise 90% of its cells, but also contains melanocytes, Langerh ...
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Germany
Germany,, officially the Federal Republic of Germany, is a country in Central Europe. It is the second most populous country in Europe after Russia, and the most populous member state of the European Union. Germany is situated between the Baltic and North seas to the north, and the Alps to the south; it covers an area of , with a population of almost 84 million within its 16 constituent states. Germany borders Denmark to the north, Poland and the Czech Republic to the east, Austria and Switzerland to the south, and France, Luxembourg, Belgium, and the Netherlands to the west. The nation's capital and most populous city is Berlin and its financial centre is Frankfurt; the largest urban area is the Ruhr. Various Germanic tribes have inhabited the northern parts of modern Germany since classical antiquity. A region named Germania was documented before AD 100. In 962, the Kingdom of Germany formed the bulk of the Holy Roman Empire. During the 16th ce ...
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Syria
Syria ( ar, سُورِيَا or سُورِيَة, translit=Sūriyā), officially the Syrian Arab Republic ( ar, الجمهورية العربية السورية, al-Jumhūrīyah al-ʻArabīyah as-Sūrīyah), is a Western Asian country located in the Eastern Mediterranean and the Levant. It is a unitary state, unitary republic that consists of Governorates of Syria, 14 governorates (subdivisions), and is bordered by the Mediterranean Sea to the west, Turkey to the north, Iraq to Iraq–Syria border, the east and southeast, Jordan to Jordan–Syria border, the south, and Israel and Lebanon to Lebanon–Syria border, the southwest. Cyprus lies to the west across the Mediterranean Sea. A country of fertile plains, high mountains, and deserts, Syria is home to demographics of Syria, diverse ethnic and religious groups, including the majority Syrians, Syrian Arabs, Kurds in Syria, Kurds, Syrian Turkmen, Turkmens, Assyrians in Syria, Assyrians, Armenians in Syria, Armenians, Circa ...
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University Of Modena
The University of Modena and Reggio Emilia ( it, Università degli Studi di Modena e Reggio Emilia), located in Modena and Reggio Emilia, Emilia-Romagna, Italy, is one of the oldest universities in Italy, founded in 1175, with a population of 20,000 students. The medieval university disappeared by 1338 and was replaced by "three public lectureships" which did not award degrees and were suspended in the 1590s "for lack of money". The university was not reestablished in Modena until the 1680s and did not receive an imperial charter until 1685.Quoted from: Grenler, Paul F. The Universities of the Italian Renaissance Johns Hopkins University Press, 2004. Page 137. Some famous students who attended the university include Ludovico Antonio Muratori, a noted Italian historian and scholar who graduated in 1694, the playwright Carlo Goldoni in the 17th century and, in the last century, Sandro Pertini, who became President of the Italian Republic. Brief History The University of Mode ...
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Autosomal Recessive
In genetics, dominance is the phenomenon of one variant ( allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as in ...
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