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Hyperostosis
Hyperostosis is an excessive growth of bone. It may lead to exostosis. It occurs in many musculoskeletal disorders and from use of drugs like Isotretinoin. Disorders featuring hyperostosis include: * Camurati-Engelmann disease, type 2 * Hypertrophic osteoarthropathy, primary, autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ..., 2 * Melorheostosis * Tumoral calcinosis, hyperphosphatemic, familial, 1 * Worth disease See also * Diffuse idiopathic skeletal hyperostosis * Hyperostosis frontalis interna * Infantile cortical hyperostosis * Porotic hyperostosis * SAPHO syndrome References * * * * External links Gross pathology Osteopathies {{pathology-stub ...
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Diffuse Idiopathic Skeletal Hyperostosis
Diffuse idiopathic skeletal hyperostosis (DISH) is a condition characterized by abnormal calcification/bone formation (hyperostosis) of the soft tissues surrounding the joints of the spine, and also of the peripheral or appendicular skeleton. In the spine, there is bone formation along the anterior longitudinal ligament and sometimes the posterior longitudinal ligament, which may lead to partial or complete fusion of adjacent vertebrae. The facet and sacroiliac joints tend to be uninvolved. The thoracic spine is the most common level involved. In the peripheral skeleton, DISH manifests as a calcific enthesopathy, with pathologic bone formation at sites where ligaments and tendons attach to bone. Signs and symptoms Symptoms may include pain, stiffness, and restricted movements of the affected areas. The majority of people with DISH are not symptomatic, and the findings are an incidental imaging abnormality. In some, the x-ray findings may correspond to symptoms of back stiff ...
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Infantile Cortical Hyperostosis
Infantile cortical hyperostosis (ICH) is a self-limited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability. The disease may be present at birth or occur shortly thereafter. The cause is unknown. Both familial and sporadic forms occur. It is also known as Caffey disease or Caffey's disease. Presentation An affected infant typically has the following triad of signs and symptoms: soft-tissue swelling, bone lesions, and irritability. The swelling occurs suddenly, is deep, firm, and may be tender. Lesions are often asymmetric and may affect several parts of the body. Affected bones have included the mandible, tibia, ulna, clavicle, scapula, ribs, humerus, femur, fibula, skull, ilium, and metatarsals. When the mandible (lower jaw bone) is affected, infants may refuse to eat, leading to failure to thrive. Genetics ICH is associated with autosomal dominant pathogenic variants in '' COL1A1'' and possibly '' IFITM5''. Pathophysiolo ...
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SAPHO Syndrome
SAPHO syndrome includes a variety of inflammatory bone disorders that may be associated with skin changes. These diseases share some clinical, radiologic, and pathologic characteristics. An entity initially known as chronic recurrent multifocal osteomyelitis was first described in 1972. Subsequently, in 1978, several cases of were associated with blisters on the palms and soles ( palmoplantar pustulosis). Since then, a number of associations between skin conditions and osteoarticular disorders have been reported under a variety of names, including sternocostoclavicular hyperostosis, pustulotic arthro-osteitis, and acne-associated spondyloarthropathy. The term SAPHO (an acronym for synovitis, arthritis, pustulosis, hyperostosis, osteitis) was coined in 1987 to represent this spectrum of inflammatory bone disorders that may or may not be associated with dermatologic pathology. Diagnosis Radiologic findings * Anterior chest wall (most common site, 65–90% of patients): Hyperost ...
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Worth Syndrome
Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hyperostosis or Worth disease, is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene. It is characterized by increased bone density and benign bony structures on the palate. Causes Worth syndrome is caused by a mutation in the LRP5 gene, located on human chromosome 11q13.4. The disorder is inherited in an autosomal dominant fashion. This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 11 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. Diagnosis Treatment History The condition was first reported by H. M. Worth in 1966. In 1977, two doctors, R.J. Gorlin and L. Glass, distinguished the syndrome from van Buchem disease. ...
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Isotretinoin
Isotretinoin, also known as 13-''cis''-retinoic acid and sold under the brand name Accutane among others, is a medication used to treat skin diseases like harlequin-type ichthyosis, and lamellar ichthyosis, and severe cystic acne or moderate acne that is unresponsive to antibiotics. Isotretinoin is used off-label to treat basal cell carcinoma and squamous cell carcinoma, although clinical evidence suggests it is not effective in this setting. It is a retinoid, meaning it is related to vitamin A, and is found in small quantities naturally in the body. Its isomer, tretinoin, is also an acne drug. The most common adverse effects are dry lips ( cheilitis), dry and fragile skin ( xeroderma), dry eyes and an increased susceptibility to sunburn. Uncommon and rare side effects include muscle aches and pains ( myalgias), and headaches. Some of those side effects can persist long after the discontinuation of the use of the drug. Isotretinoin may cause liver failure, therefore th ...
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Camurati–Engelmann Disease
Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is also known as progressive diaphyseal dysplasia. It is a form of dysplasia. Patients typically have heavily thickened bones, especially along the shafts of the long bones (called diaphyseal dysplasia). The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, possibly leading to sensory deficits, blindness, or deafness. This disease often appears in childhood and is considered to be inherited; however, many patients have no previous history of CED within their family. The disease is slowly progressive and, while there is no cure, there is treatment. It is named for M. Camurati and G. Engelmann. Signs and symptoms Patients with CED complain of chronic bone pain in the legs or arms, muscle weakness (myopathy) and experience a waddling gait. Other clinical problems associa ...
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Bone
A bone is a rigid organ that constitutes part of the skeleton in most vertebrate animals. Bones protect the various other organs of the body, produce red and white blood cells, store minerals, provide structure and support for the body, and enable mobility. Bones come in a variety of shapes and sizes and have complex internal and external structures. They are lightweight yet strong and hard and serve multiple functions. Bone tissue (osseous tissue), which is also called bone in the uncountable sense of that word, is hard tissue, a type of specialised connective tissue. It has a honeycomb-like matrix internally, which helps to give the bone rigidity. Bone tissue is made up of different types of bone cells. Osteoblasts and osteocytes are involved in the formation and mineralisation of bone; osteoclasts are involved in the resorption of bone tissue. Modified (flattened) osteoblasts become the lining cells that form a protective layer on the bone surface. The mine ...
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Journal Of The American Medical Association
''JAMA'' (''The Journal of the American Medical Association'') is a peer-reviewed medical journal published 48 times a year by the American Medical Association. It publishes original research, reviews, and editorials covering all aspects of biomedicine. The journal was established in 1883 with Nathan Smith Davis as the founding editor. Kirsten Bibbins-Domingo of the University of California San Francisco became the journal editor-in-chief on July 1, 2022, succeeding Howard Bauchner of Boston University. According to ''Journal Citation Reports'', the journal's 2024 impact factor is 63.1, ranking it 4th out of 168 journals in the category "Medicine, General & Internal". History The journal was established in 1883 by the American Medical Association and superseded the ''Transactions of the American Medical Association''. ''Councilor's Bulletin'' was renamed the ''Bulletin of the American Medical Association'', which later was absorbed by the ''Journal of the American Medi ...
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Seminars In Arthritis And Rheumatism
A seminar is a form of academic instruction, either at an academic institution or offered by a commercial or professional organization. It has the function of bringing together small groups for recurring meetings, focusing each time on some particular subject, in which everyone present is requested to participate. This is often accomplished through an ongoing Socratic dialogue with a seminar leader or instructor, or through a more formal presentation of research. It is essentially a place where assigned readings are discussed, questions can be raised and debates can be conducted. Etymology The word ''seminar'' was borrowed from German (in which it is capitalized as ), and is ultimately derived from the Latin word , meaning 'seed plot' (an old-fashioned term for 'seedbed'). Its root word is (Latin for 'seed'). Overview In some European universities, a ''seminar'' may be a large lecture course, especially when conducted by a renowned thinker (regardless of the size of the audienc ...
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Archives Of Disease In Childhood
''Archives of Disease in Childhood'' is a peer review, peer-reviewed medical journal published by the BMJ Group and covering the field of paediatrics. It is the official journal of the Royal College of Paediatrics and Child Health. Scope ''Archives of Disease in Childhood'' focuses on all aspects of pediatric nursing, child health and child disease, disease from the perinatal period through to adolescence. It includes original research reports, commentaries, reviews of clinical and policy issues, and evidence reports. Other sections include: guidelines updates, international health, and a column written by patients about their experience with the health care system. Douglas Gairdner served as editor from 1964 to 1979 and because of his creative editing, he was awarded the Dawson-Williams prize of the British Medical Association. Abstracting and indexing The journal is indexed on MEDLINE/Index Medicus, Web of Science, and EMBASE, Excerpta Medica. According to the ''Journal Cit ...
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American Journal Of Physical Anthropology
The ''American Journal of Biological Anthropology''Info pages about the renaming are: https://onlinelibrary.wiley.com/page/journal/26927691/homepage/productinformation.html and https://onlinelibrary.wiley.com/journal/26927691 (previously known as the ''American Journal of Physical Anthropology'') is a Peer review, peer-reviewed scientific journal and the official journal of the American Association of Biological Anthropologists. It was established in 1918 by Aleš Hrdlička (U.S. National Museum, now the Smithsonian Institution's National Museum of Natural History). The journal covers the field of biological anthropology, a discipline which Hrdlička defined in the first issue as "the study of racial anatomy, physiology and pathology." The Wistar Institute, Wistar Institute of Anatomy and Biology was the original publisher. Before launching publication, there were few outlets in the United States to publish scientific work in physical anthropology. Scientists hoping to learn more a ...
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