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Blue Rubber Bleb Nevus
Blue rubber bleb nevus syndrome is a rare disorder that consists mainly of abnormal blood vessels affecting the skin or internal organs – usually the gastrointestinal tract. The disease is characterized by the presence of fluid-filled blisters ( blebs) as visible, circumscribed, chronic lesions (nevi). BRBNS is caused by somatic mutations in the TEK (TIE2) gene. It was described by William Bennett Bean in 1958. Presentation BRBNS is a venous malformation, formerly, though incorrectly, thought to be related to the hemangioma. It sometimes causes serious bleeding. Lesions are most commonly found on the skin and in the small intestine and distal large bowel. The lesions can also be found in the central nervous system, liver, and muscles. It usually presents soon after birth or during early infancy. Causes The cause of blue rubber bleb nevus syndrome is currently unknown. The syndrome is considered sporadic. A patient who is diagnosed with BRBNS likely has a family history o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular gro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Large Bowel
The large intestine, also known as the large bowel, is the last part of the gastrointestinal tract and of the digestive system in tetrapods. Water is absorbed here and the remaining waste material is stored in the rectum as feces before being removed by defecation. The colon is the longest portion of the large intestine, and the terms are often used interchangeably but most sources define the large intestine as the combination of the cecum, colon, rectum, and anal canal. Some other sources exclude the anal canal. In humans, the large intestine begins in the right iliac region of the pelvis, just at or below the waist, where it is joined to the end of the small intestine at the cecum, via the ileocecal valve. It then continues as the colon ascending the abdomen, across the width of the abdominal cavity as the transverse colon, and then descending to the rectum and its endpoint at the anal canal. Overall, in humans, the large intestine is about long, which is about one ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes With Tumors
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Cutaneous Conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin.Burns, Tony; ''et al''. (2006) ''Rook's Textbook of Dermatology CD-ROM''. Wiley-Blackwell. . Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying mesoderm th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bart Syndrome
Bart syndrome, also known as aplasia cutis congenita type VI, is a rare genetic disorder characterized by the association of congenital localized absence of skin, mucocutaneous blistering and absent and dystrophic nails. History This clinical trial was first described by Bruce J Bart in 1966, who reported a large family with 26 affected members. Clinical 1. Absence of skin at birth, involving the lower legs and feet, healing within a few months, leaving scarring and fragile skin. 2. Widespread blistering of the skin and mucous membranes. 3. Variable absence and dystrophy of nails. Genetics The syndrome is inherited by autosomal dominant transmission with complete penetrance but variable expression. This means that children of an affected parent that carries the gene have a 50% chance of developing the disorder, although the extent to which they are affected is variable. Blistering in Bart syndrome represents a form of epidermolysis bullosa caused by ultrastructural abnormaliti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sclerotherapy
Sclerotherapy (the word reflects the Greek ''skleros'', meaning ''hard'') is a procedure used to treat blood vessel malformations (vascular malformations) and also malformations of the lymphatic system. A medicine is injected into the vessels, which makes them shrink. It is used for children and young adults with vascular or lymphatic malformations. In adults, sclerotherapy is often used to treat spider veins, smaller varicose veins, hemorrhoids,William R. Finkelmeier, Sclerotherapy, Ch. 12, ACS Surgery: Principles & Practice, 2004, WebMD (hardcover book) and hydroceles.Darren T Beiko, Aspiration and Sclerotherapy versus hydrocelectomy for treatment of hydroceles, Urology Vol 61, Issue 4 (Apr 2003) Sclerotherapy is one method (along with surgery, radiofrequency, and laser ablation) for the treatment of spider veins, occasionally varicose veins, and venous malformations. In ultrasound-guided sclerotherapy, ultrasound is used to visualize the underlying vein so the physician can de ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cryotherapy
Cryotherapy, sometimes known as cold therapy, is the local or general use of low temperatures in medical therapy. Cryotherapy may be used to treat a variety of tissue lesions. The most prominent use of the term refers to the surgical treatment, specifically known as cryosurgery or cryoablation. Cryosurgery is the application of extremely low temperatures to destroy abnormal or diseased tissue and is used most commonly to treat skin conditions. Cryotherapy is used in an effort to relieve muscle pain, sprains and swelling after soft tissue damage or surgery. For decades, it has been commonly used to accelerate recovery in athletes after exercise. Cryotherapy decreases the temperature of tissue surface to minimize hypoxic cell death, edema accumulation, and muscle spasms, all of which ultimately alleviate discomfort and inflammation. It can be a range of treatments from the application of ice packs or immersion in ice baths (generally known as cold therapy), to the use of cold chambe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Electrodesiccation
Cauterization (or cauterisation, or cautery) is a medical practice or technique of burning a part of a body to remove or close off a part of it. It destroys some tissue in an attempt to mitigate bleeding and damage, remove an undesired growth, or minimize other potential medical harm, such as infections when antibiotics are unavailable. The practice was once widespread for treatment of wounds. Its utility before the advent of antibiotics was said to be effective at more than one level: *To prevent exsanguination *To close amputations Cautery was historically believed to prevent infection, but current research shows that cautery actually increases the risk for infection by causing more tissue damage and providing a more hospitable environment for bacterial growth. Actual cautery refers to the metal device, generally heated to a dull red glow, that a physician applies to produce blisters, to stop bleeding of a blood vessel, and for other similar purposes., page 16. The main forms ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gastrointestinal Bleeding
Gastrointestinal bleeding (GI bleed), also called gastrointestinal hemorrhage (GIB), is all forms of bleeding in the gastrointestinal tract, from the mouth to the rectum. When there is significant blood loss over a short time, symptoms may include vomiting red blood, vomiting black blood, bloody stool, or black stool. Small amounts of bleeding over a long time may cause iron-deficiency anemia resulting in feeling tired or heart-related chest pain. Other symptoms may include abdominal pain, shortness of breath, pale skin, or passing out. Sometimes in those with small amounts of bleeding no symptoms may be present. Bleeding is typically divided into two main types: upper gastrointestinal bleeding and lower gastrointestinal bleeding. Causes of upper GI bleeds include: peptic ulcer disease, esophageal varices due to liver cirrhosis and cancer, among others. Causes of lower GI bleeds include: hemorrhoids, cancer, and inflammatory bowel disease among others. Diagnosis typi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sporadic Disease
In epidemiology, sporadic is a term used to refer to a disease which occurs only infrequently, haphazardly, irregularly or occasionally from time to time in a few isolated places with no discernible temporal or spatial pattern, as opposed to a recognizable epidemic or endemic pattern. The cases are so few (single or in a cluster) and separated so widely in time and place that there exists little or no connection within them. They also do not show a recognizable common source of infection.According to : "...sporadic cases do not necessarily share a single specific common contaminated source..." In the United States, tetanus, rabies, and plague are considered examples of sporadic diseases. Although the tetanus-causing bacteria ''Clostridium tetani'' is present in the soil everywhere in the United States, tetanus infections are very rare and occur in scattered locations because most individuals have either received vaccinations or clean wounds appropriately. Similarly the country record ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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