Hapnes Boman Skeie Syndrome
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Hapnes Boman Skeie Syndrome
Hapnes Boman Skeie syndrome is a rare genetic disorder in which subcutaneous angiolipomas form around the wrists, knees, and ankles. The syndrome was first described by Sveln Hapnes et al. in 1980. Hapnes Boman Skeie syndrome is also known as "anomalous insertion of extensor tendons of fingers". This name derives from the condition that the tendons of the fingers are attached in such a way that the fingers cannot open or close normally. Though the tumors extend deeply into the muscle tissue, joint A joint or articulation (or articular surface) is the connection made between bones, ossicles, or other hard structures in the body which link an animal's skeletal system into a functional whole.Saladin, Ken. Anatomy & Physiology. 7th ed. McGraw ...s, and tendons, the tumors did not invade these structures. References External links {{DEFAULTSORT:Stimmler Syndrome Genetic diseases and disorders Rare syndromes ...
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Genetic Disorder
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 Heredity, 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 linkage, Y chromosome or Mitochondrial disease#Causes, mitochondrial DNA (due to t ...
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Subcutaneous Tissue
The subcutaneous tissue (), also called the hypodermis, hypoderm (), subcutis, superficial fascia, is the lowermost layer of the integumentary system in vertebrates. The types of cells found in the layer are fibroblasts, adipose cells, and macrophages. The subcutaneous tissue is derived from the mesoderm, but unlike the dermis, it is not derived from the mesoderm's dermatome region. It consists primarily of loose connective tissue, and contains larger blood vessels and nerves than those found in the dermis. It is a major site of fat storage in the body. In arthropods, a hypodermis can refer to an epidermal layer of cells that secretes the chitinous cuticle. The term also refers to a layer of cells lying immediately below the epidermis of plants. Structure * Fibrous bands anchoring the skin to the deep fascia * Collagen and elastin fibers attaching it to the dermis * Fat is absent from the eyelids, clitoris, penis, much of pinna, and scrotum * Blood vessels on route to the der ...
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Angiolipoma
Angiolipoma is a subcutaneous nodule with vascular structure, having all other features of a typical lipoma. They are commonly painful.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Pathology Histopathology File:Angiolipoma (4670135502).jpg, Small vessels in adipose tissue File:Angiolipoma (4669511063).jpg, Small vessels in adipose tissue File:Skin Tumors-PA030897.jpg, Small vessels in adipose tissue File:Skin Tumors-PA030898.jpg, Small vessels in adipose tissue File:Histopathology of angiolipoma.jpg, The vessels typically contain hyaline or fibrin (pictured) thrombi Topic Completed: 1 August 2012. Minor changes: 20 March 2019 Diagnosis Differential diagnosis * Kaposi sarcoma * Angiosarcoma See also * Lipoma * 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 bod ...
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Tendon
A tendon or sinew is a tough, high-tensile-strength band of dense fibrous connective tissue that connects muscle to bone. It is able to transmit the mechanical forces of muscle contraction to the skeletal system without sacrificing its ability to withstand significant amounts of tension. Tendons are similar to ligaments; both are made of collagen. Ligaments connect one bone to another, while tendons connect muscle to bone. Structure Histologically, tendons consist of dense regular connective tissue. The main cellular component of tendons are specialized fibroblasts called tendon cells (tenocytes). Tenocytes synthesize the extracellular matrix of tendons, abundant in densely packed collagen fibers. The collagen fibers are parallel to each other and organized into tendon fascicles. Individual fascicles are bound by the endotendineum, which is a delicate loose connective tissue containing thin collagen fibrils and elastic fibres. Groups of fascicles are bounded by the epitenon, ...
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Muscle Tissue
Muscle tissue (or muscular tissue) is soft tissue that makes up the different types of muscles in most animals, and give the ability of muscles to contract. Muscle tissue is formed during embryonic development, in a process known as myogenesis. Muscle tissue contains special contractile proteins called actin and myosin which contract and relax to cause movement. Among many other muscle proteins present are two regulatory proteins, troponin and tropomyosin. Muscle tissues vary with function and location in the body. In mammals the three types are: skeletal or striated muscle tissue; smooth muscle (non-striated) muscle; and cardiac muscle. Skeletal muscle tissue consists of elongated muscle cells called muscle fibers, and is responsible for movements of the body. Other tissues in skeletal muscle include tendons and perimysium. Smooth and cardiac muscle contract involuntarily, without conscious intervention. These muscle types may be activated both through the interaction of t ...
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Joint
A joint or articulation (or articular surface) is the connection made between bones, ossicles, or other hard structures in the body which link an animal's skeletal system into a functional whole.Saladin, Ken. Anatomy & Physiology. 7th ed. McGraw-Hill Connect. Webp.274/ref> They are constructed to allow for different degrees and types of movement. Some joints, such as the knee, elbow, and shoulder, are self-lubricating, almost frictionless, and are able to withstand compression and maintain heavy loads while still executing smooth and precise movements. Other joints such as sutures between the bones of the skull permit very little movement (only during birth) in order to protect the brain and the sense organs. The connection between a tooth and the jawbone is also called a joint, and is described as a fibrous joint known as a gomphosis. Joints are classified both structurally and functionally. Classification The number of joints depends on if sesamoids are included, age of the ...
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Genetic Diseases And Disorders
Genetic may refer to: *Genetics, in biology, the science of genes, heredity, and the variation of organisms **Genetic, used as an adjective, refers to genes ***Genetic disorder, any disorder caused by a genetic mutation, whether inherited or de novo ***Genetic mutation, a change in a gene ****Heredity, genes and their mutations being passed from parents to offspring **Genetic recombination, refers to the recombining of alleles resulting in a new molecule of DNA *Genetic relationship (linguistics), in linguistics, a relationship between two languages with a common ancestor language *Genetic algorithm In computer science and operations research, a genetic algorithm (GA) is a metaheuristic inspired by the process of natural selection that belongs to the larger class of evolutionary algorithms (EA). Genetic algorithms are commonly used to gene ..., in computer science, a kind of search technique modeled on evolutionary biology See also * Genetic memory (other) {{disam ...
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