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Recessive Dystrophic Epidermolysis Bullosa
Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. "Butterfly child" is the colloquial name for a child born with the disease, as their skin is seen to be as delicate and fragile as the wings of a butterfly. Signs and symptoms The deficiency in anchoring fibrils impairs the adherence between the epidermis and the underlying dermis. The skin of DEB patients is thus highly susceptible to severe blistering. Collagen VII is also associated with the epithelium of the esophageal lining, and DEB patients may have chronic scarring, webbing, and obstruction of the esophagus. Affected individuals are often severely malnourished due to trauma to the oral and esophageal mucosa and require feeding tubes for nutrition. They also have iron-deficiency anemia of uncertain origin, which leads to chronic fatigue. Open wounds on the skin heal slowly or not at all, often scarring extensively, and are particularly susceptible to infe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inherited Disease
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known genet ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Collagen
Collagen () is the main structural protein in the extracellular matrix found in the body's various connective tissues. As the main component of connective tissue, it is the most abundant protein in mammals, making up from 25% to 35% of the whole-body protein content. Collagen consists of amino acids bound together to form a triple helix of elongated fibril known as a collagen helix. It is mostly found in connective tissue such as cartilage, bones, tendons, ligaments, and skin. Depending upon the degree of mineralization, collagen tissues may be rigid (bone) or compliant (tendon) or have a gradient from rigid to compliant (cartilage). Collagen is also abundant in corneas, blood vessels, the gut, intervertebral discs, and the dentin in teeth. In muscle tissue, it serves as a major component of the endomysium. Collagen constitutes one to two percent of muscle tissue and accounts for 6% of the weight of the skeletal muscle tissue. The fibroblast is the most common cell that crea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 bul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MMP1
Interstitial collagenase, also known as fibroblast collagenase, and matrix metalloproteinase-1 (MMP-1) is an enzyme that in humans is encoded by the ''MMP1'' gene. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. MMP-1 was the first vertebrate collagenase both purified to homogeneity as a protein, and cloned as a cDNA. MMP-1 has an estimated molecular weight of 54 kDa. Structure MMP-1 has an archetypal structure consisting of a pre-domain, a pro-domain, a catalytic domain, a linker region and a hemopexin-like domain. The primary structure of MMP-1 was first published by Goldberg, G I, ''et al.'' Two main nomenclatures for the primary structure are currently in use, the original one from which the first amino-acid starts with the signalling peptide and a second one where the first amino-acid starts counting from the prodomain (proenzyme nomenclature). Catalytic domain The catalytic domains of MMPs share very similar characteristics, having a gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hermann Werner Siemens
Hermann Werner Siemens (August 20, 1891 (Charlottenberg) -1969)Ruggieri, Martino. "Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes." Springer-Werlag/Vien, 2008. was a German dermatologist who first described multiple skin diseases and was one of the inventors of the twin study. Siemens' work in twin studies is influential in modern genetics and is used to address the environmental and genetic impacts upon traits.Rende, R.D., Plomin, R. & Vandenberg, S.G. Behav Genet (1990) 20: 277. https://doi.org/10.1007/BF01067795 Siemens was involved in racial hygiene and affiliated with the Nazi Party.Joseph, Jay & Wetzel, Norbert A. (2012). Ernst Rüdin: Hitler's Racial Hygiene Mastermind. Journal of the History of Biology. 46. 10.1007/s10739-012-9344-6. Early life and career Siemens studied at Berlin and Munich universities, receiving his doctorate in 1918.Prakken, J.R. "The Development of Dermatology in the Netherlands." Dermatology in the European Economic Community, Br ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
François Henri Hallopeau
__NOTOC__ François Henri Hallopeau (17 January 1842, Paris – 20 March 1919, Paris) was a French dermatologist. He studied medicine under Alfred Vulpian and Sigismond Jaccoud. He co-founded and was secretary general of the ''Société Française de dermatologie et de syphiligraphie''. He became a member of the ''Académie de Médecine'' in 1893. He coined the medical term ''trichotillomania'' in 1889. He also coined the word ''antibiotique'' in 1871 to describe a substance opposed to the development of life. Selman Waksman was later credited with coining the word ''antibiotic'' to describe such compounds that were derived from other living organisms, such as penicillin. Terms * Recessive dystrophic epidermolysis bullosa (also known as Hallopeau-Siemens syndrome) * Pemphigus vegetans of Hallopeau Papers * * * * * * See also *Timeline of tuberous sclerosis The history of tuberous sclerosis (TSC) research spans less than 200 years. TSC is a rare, multi-system genetic disea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COL7A1
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, 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, laminin-5 and Type IV collagen, collagen IV, contribute greatly to the overall stability of the basement membrane. Structure Type VII collagen is composed of three main domains in the following order: a non-collagenous domain, abbreviated NC-1; a collagenous domain; and a second non-collagenous domain, NC-2. The NC-1 domain has a cartilage matrix protein (CMP), nine Fibronectin type III domain, fibronectin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bulla (dermatology)
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 res ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
OMIM
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Dr. Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Journal Of The American Academy Of Dermatology
The ''Journal of the American Academy of Dermatology'', sometimes abbreviated ''JAAD'', is a monthly peer-reviewed medical journal covering dermatology. It was established in 1979 and is published by Elsevier on behalf of the American Academy of Dermatology, of which it is the official journal. The editor-in-chief is Dirk Elston ( Medical University of South Carolina). According to the ''Journal Citation Reports'', the journal has a 2017 impact factor of 6.898. JAAD has a companion journal focusing on case report In medicine, a case report is a detailed report of the symptoms, signs, diagnosis, treatment, and follow-up of an individual patient. Case reports may contain a demographic profile of the patient, but usually describe an unusual or novel occurrenc ...s called '' JAAD Case Reports''. References External links *{{Official website, http://www.jaad.org/ Dermatology journals Monthly journals Elsevier academic journals Publications established in 1979 Academic journal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 bul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Journal Of Cellular And Molecular Medicine
''Journal of Cellular and Molecular Medicine'' (abbreviated ''J Cell Mol Med'' or ''JCMM'') is a bi-monthly, peer-reviewed, scientific journal published by Wiley-Blackwell in association with the Foundation for Cellular and Molecular Medicine. The journal focuses on translational medicine, spanning disease-oriented basic research in molecular and cellular biology Cell biology (also cellular biology or cytology) is a branch of biology that studies the structure, function, and behavior of cells. All living organisms are made of cells. A cell is the basic unit of life that is responsible for the living and ... and pre-clinical investigations into molecular and cellular therapeutics. ''JCMM'' publishes both reviews and original research. ''JCMM''′s 2020 impact factor is 5.310, placing it 31st among the 136 journals tracked in Clarivate Analytics' category "Medicine, Research & Experimental." ''JCMM'' was previously known as ''Journal of Medicine and Biochemistry''. [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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