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Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
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Four types of cementomas are described :
- Benign cementoblastoma
- Periapical cemental dysplasia
- Multiple apical cementomas
- Gigantiform cementoma
The tibia is the most commonly involved bone, accounting for 85% of cases. It is usually painless, although there may be localized pain or fracture, and presents as a localized firm swelling of the tibia in children less than two decades old (median age for males 10, females 13). Several authors have related this non-neoplastic lesion to adamantinoma - a tumor involving subcutaneous long bones - stating the common cause to be fibrovascular defect. However, the latter is distinguished from an osteofibrous dysplasia by the presence of soft tissue extension, intramedullary extension, periosteal reaction and presence of hyperchromic epithelial cells under the microscope.
Osteofibrous dysplasia may also be mistaken for fibrous dysplasia of bone, although osteofibrous dysplasia is more likely to show an immunohistochemical reaction to osteonectin, neurofibromin, and S-100 protein.
Cementoma is an odontogenic tumor of cementum. It usually occurs after root development is finished, found predominantly in African American women older than 40. It is found most commonly in the mandible in the region of the lower molar teeth. It causes distortion of surrounding areas but is a usually painless growth, at least initially. Considerable thickening of the cementum can often be observed. A periapical form is also recognized.
Osteofibrous dysplasia (also known as ossifying fibroma) is a rare, benign non-neoplastic condition with no known cause. It is considered a fibrovascular defect. Campanacci described this condition in two leg bones, the tibia and fibula, and coined the term. This condition should be differentiated from Nonossifying fibroma and fibrous dysplasia of bone.
Dysplasia (from Ancient Greek δυσ- "dys-", "bad" or "difficult" and πλάσις "plasis", "formation") is a term used in pathology to refer to an abnormality of development or an epithelial anomaly of growth and differentiation (epithelial dysplasia).
The terms hip dysplasia, fibrous dysplasia, and renal dysplasia refer to an abnormal development, at macroscopic or microscopical level.
Myelodysplastic syndromes, or dysplasia of blood-forming cells, show increased numbers of immature cells in the bone marrow, and a decrease in mature, functional cells in the blood.
The skin may be lightly pigmented. Skin sustaining injury may grow back permanently hypo-pigmented. In some cases, red or brown pigmentation may be present. Skin can be prone to rashes or infections and can be thick over the palms and soles. Care must be taken to prevent cracking, bleeding, and infection.
Fingernails and toenails may be thick, abnormally shaped, discolored, ridged, slow-growing, or brittle. The cuticles may be prone to infections.
Examples of dysplasia include epithelial dysplasia of the cervix (cervical intraepithelial neoplasia – a disorder commonly detected by an abnormal pap smear) consisting of an increased population of immature (basal-like) cells which are restricted to the mucosal surface, and have not invaded through the basement membrane to the deeper soft tissues. Analogous conditions include vaginal intraepithelial neoplasia and vulvar intraepithelial neoplasia. Metanephric dysplastic hematoma of the sacral region is a dysplastic overgrowth observed in infants.
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis. It is also known as Greenberg dysplasia. Greenberg characterized the condition in 1988.
It has been associated with the lamin B receptor.
Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body. An inability to sweat can lead to a dangerously high body temperature (hyperthermia) particularly in hot weather. In some cases, hyperthermia can cause life-threatening medical problems.
Affected individuals tend to have sparse scalp and body hair (hypotrichosis). The hair is often light-coloured, brittle, and slow-growing. This condition is also characterized by absent teeth (hypodontia) or teeth that are malformed. The teeth that are present are frequently small and pointed.
Hypohidrotic ectodermal dysplasia is associated with distinctive facial features including a prominent forehead, thick lips, and a flattened bridge of the nose. Additional features of this condition include thin, wrinkled, and dark-colored skin around the eyes; chronic skin problems such as eczema; and a bad-smelling discharge from the nose (ozena).
Hypohidrotic ectodermal dysplasia is the most common form of ectodermal dysplasia in humans. It is estimated to affect at least 1 in 17,000 people worldwide.
Cemento-osseous dysplasia (COD) is a benign condition of the jaws that may arise from the fibroblasts of the periodontal ligaments. It is most common in African-American females. The three types are periapical cemental dysplasia (common in those of African descent), focal cemento-osseous dysplasia (Caucasians), and florid cemento-osseous dysplasia (African descent). Periapical occurs most commonly in the mandibular anterior teeth while focal appears predominantly in the mandibular posterior teeth and florid in both maxilla and mandible in multiple quadrants.
Pacman dysplasia (alternatively known as epiphyseal stippling with osteoclastic hyperplasia) is a lethal autosomal recessive skeletal dysplasia. The dysplasia is present during fetal development.
There is no treatment necessary for any type of COD. Diagnosis is important so that the treating doctor does not confuse it for another periapical disease such as rarefying osteitis or condensing osteitis. Incorrect diagnosis could lead to unnecessary root canal treatments. It can be diagnosed by radiographic appearance. Confirming the tooth is vital, as is noting the demographic (African American females).
This condition is a skeletal dysplasia characterized by short stature, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, platyspondyly, delayed epiphyseal ossification, mild metaphyseal abnormalities, short stature and short and bowed legs. Intelligence is normal.
Some patients may manifest premature pubarche and hyperandrogenism.
Other features that may form part of the syndrome include precocious costal calcification, small iliac bones, short femoral necks, coxa vara, short halluces and fused vertebral bodies.
Pure hair-nail type ectodermal dysplasia is a genetic mutation in the "hair matrix and cuticle keratin KRTHB5 gene" that causes ectodermal dysplasia of hair and nail type. Manifestations of this disorder include onychodystrophy and severe hypotrichosis. It represents as an autosomal dominant trait.
Melorheostosis is a mesenchymal dysplasia manifesting as regions of dripping wax appearance or flowing candle wax appearance. It is thought to be caused by a mutation of the LEMD3 gene. The disorder can be detected by radiograph due to thickening of bony cortex resembling "dripping candle wax". It is included on the spectrum of developmental bone dysplasias including pycnodysostosis and osteopoikilosis. The disorder tends to be unilateral and monostotic (i.e. affecting a single bone), with only one limb typically involved. Cases with involvement of multiple limbs, ribs, and bones in the spine have also been reported. There are no reported cases of involvement of skull or facial bones. Melorheostosis can be associated with pain, physical deformity, skin and circulation problems, contractures, and functional limitation. It is also associated with a benign inner ear dysplasia known as osteosclerosis.
It is not known if LEMD3 mutations can cause isolated melorheostosis in the absence of Buschke-Ollendorff syndrome.
Polyostotic fibrous dysplasia is a form of fibrous dysplasia affecting more than one bone.
McCune-Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation.
One treatment that has been used is bisphosphonates.
It involves numerous anomalies including:
- Post-axial polydactyly
- Congenital heart defects (most commonly an atrial septal defect producing a common atrium, occurring in 60% of affected individuals)
- Teeth present at birth (natal teeth)
- Fingernail dysplasia
- Short-limbed dwarfism, mesomelic pattern
- Short ribs
- Cleft palate
- Malformation of the wrist bones (fusion of the hamate and capitate bones).
People with this condition are short-statured from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. Curvature of the spine (scoliosis and lumbar lordosis) may be severe and can cause problems with breathing. Changes in the spinal bones (vertebrae) in the neck may also increase the risk of spinal cord damage. Other skeletal signs include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), a hip joint deformity in which the upper leg bones turn inward (coxa vara), and a foot deformity known as clubfoot.
Affected individuals have mild and variable changes in their facial features. The cheekbones close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth, which is called a cleft palate. Severe nearsightedness (high myopia) and detachment of the retina (the part of the eye that detects light and color) are also common.
Monostotic fibrous dysplasia (or monostotic osteitis fibrosa) is a form of fibrous dysplasia where only one bone is involved. It comprises a majority of the cases of fibrous dysplasia.
A rare bone disorder characterized by benign bone growths which can cause very painful swellings and bone deformities and makes bone prone to fractures.
Intraepithelial neoplasia (IEN) is the development of a benign neoplasia or high-grade dysplasia in an epithelium. The exact dividing line between dysplasia and neoplasia has been very difficult to draw throughout the era of medical science. It varies between persons. In the localizations shown below, the term "intraepithelial neoplasia" is used to describe more accurately what was historically referred to as epithelial dysplasia. IEN is not cancer, but it is associated with higher risk for developing cancer in future. It is thus sometimes a precancerous condition.
Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out.
According to the disease database, Acromicric dysplasia is synonymous with Geleophysic dysplasia
(or Geleophysic Dwarfism) and Focal mucopolysaccharidosis.
Hypohidrotic ectodermal dysplasia (also known as "anhidrotic ectodermal dysplasia", and "Christ-Siemens-Touraine syndrome") is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.
Ghosal hematodiaphyseal dysplasia is a metabolic disorder.
It is associated with diaphyseal dysplasia and refractory anemia.
It is associated with a deficiency of Thromboxane-A synthase, which produces Thromboxane A2.
It was characterized in 1988.
Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving "PAPSS2" (also known as "ATPSK2"). The condition is rare.