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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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An osteoma (plural: "osteomata") is a new piece of bone usually growing on another piece of bone, typically the skull. It is a benign tumor.
When the bone tumor grows on other bone it is known as "homoplastic osteoma"; when it grows on other tissue it is called "heteroplastic osteoma".
Osteoma represents the most common benign neoplasm of the nose and paranasal sinuses. The cause of osteomata is uncertain, but commonly accepted theories propose embryologic, traumatic, or infectious causes. Osteomata are also found in Gardner's syndrome. Larger craniofacial osteomata may cause facial pain, headache, and infection due to obstructed nasofrontal ducts. Often, craniofacial osteoma presents itself through ocular signs and symptoms (such as proptosis).
Calcinosis cutis may be divided into the following types:
- Dystrophic calcinosis cutis
- Metastatic calcinosis cutis
- Iatrogenic calcinosis cutis
- Traumatic calcinosis cutis
- Idiopathic calcinosis cutis
- Idiopathic scrotal calcinosis
- Subepidermal calcified nodule
- Tumoral calcinosis
- Osteoma cutis
Calcinosis cutis (or cutaneous calcification) is a type of calcinosis wherein calcium deposits form in the skin. A variety of factors can result in this condition. The most common source is dystrophic calcification, which occurs in soft tissue as a response to injury. In addition, calcinosis is seen in Limited Cutaneous Systemic Sclerosis, also known as CREST syndrome (the "C" in CREST). In dogs, calcinosis cutis is found in young, large breed dogs and is thought to occur after a traumatic injury.
Characterized by being less than 1.5 cm in diameter, osteoid osteomas most frequently occur in young men (Male:Female ratio 3:1) and may occur in any bone of the body, most frequently around the knee but often also seen in the vertebrae, in the long bones and less commonly in the mandible or other craniofacial bones.
Severe pain typically occurs at night, but can also be constant at any time of day. The chief complaint may only be of dull pain which is non radiating and persistent throughout 24 hours but increases significantly at night. Pain tends to be relieved with NSAIDs such as ibuprofen.
The most prominent and extensively documented findings of Weismann-Netter-Stuhl syndrome are on plain radiographs of the bones. Findings include bilateral and symmetric anterior bowing of both tibiae and fibulae, lateral bowing of the tibiae, femoral bowing, and squaring of iliac and pelvis bones.
Congenital causes include:
- Klippel Trenaunay Weber syndrome
- Maffucci syndrome
- macrodystrophia lipomatosa
- neurofibromatosis,
- lipoatrophic diabetes.
- Proteus syndrome, which by one theory accounts for the deformities of the Elephant Man
Local gigantism or localised gigantism is a condition in which a certain part of the body acquires larger than normal size due to excessive growth of the anatomical structures or abnormal accumulation of substances. It is more common in fingers and toes, where it is termed macrodactyly. However, sometimes an entire limb may be enlarged.
Weismann-Netter-Stuhl syndrome, also known as Weismann-Netter Syndrome or more technically by the term tibioperoneal diaphyseal toxopachyosteosis, is a rare disorder characterized by bowing of the lower legs and an abnormal thickening of thinner bone in the leg.
The main sign is anterior bowing and posterior cortical thickening of the diaphyses of both the tibiae and fibulae. It is thought to be inherited in an autosomal dominant fashion, and is most often bilateral and symmetric in nature. Associated features include dwarfism and mild intellectual disability, as well as a process known as tibialization of the fibulae, which involves thickening and enlargement of these bones to an extent resembling the tibiae. The combination of the presence of tibialization of the fibulae, which is highly specific for the disorder, and the absence of laboratory abnormalities ruling out alternative diagnoses including rickets, essentially confirms the diagnosis.
An osteoid osteoma is a benign bone tumor that arises from osteoblasts and was originally thought to be a smaller version of an osteoblastoma. Osteoid osteomas tend to be less than 1.5 cm in size. The tumor can be in any bone in the body but are most common in long bones, such as the femur and tibia. They account for 10 to 12 percent of all benign bone tumors. "Osteoid osteomas may occur at any age, and are most common in patients between the ages of 4 and 25 years old. Males are affected approximately three times more commonly than females."
Patients with osteoblastoma usually present with pain of several months' duration. In contrast to the pain associated with osteoid osteoma, the pain of osteoblastoma usually is less intense, usually not worse at night, and not relieved readily with salicylates (aspirin and related compounds). If the lesion is superficial, the patient may have localized swelling and tenderness. Spinal lesions can cause painful scoliosis, although this is less common with osteoblastoma than with osteoid osteoma. In addition, lesions may mechanically interfere with the spinal cord or nerve roots, producing neurologic deficits. Pain and general weakness are common complaints.
Sturge–Weber syndrome is usually manifested at birth by a port-wine stain on the forehead and upper eyelid of one side of the face, or the whole face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the ophthalmic branch of the trigeminal nerve, just under the surface of the face. There is also malformation of blood vessels in the pia mater overlying the brain on the same side of the head as the birthmark. This causes calcification of tissue and loss of nerve cells in the cerebral cortex.
Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark which vary in severity. There may also be muscle weakness on the side of the body opposite the birthmark.
Some children will have developmental delays and cognitive delays; about 50% will have glaucoma (optic neuropathy often associated with increased intraocular pressure), which can be present at birth or develop later. Glaucoma can be expressed as leukocoria, which should include also further evaluation for retinoblastoma. Increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos).
Sturge–Weber syndrome rarely affects other body organs.
Osteoblastoma is an uncommon osteoid tissue-forming primary neoplasm of the bone.
It has clinical and histologic manifestations similar to those of osteoid osteoma; therefore, some consider the two tumors to be variants of the same disease, with osteoblastoma representing a giant osteoid osteoma. However, an aggressive type of osteoblastoma has been recognized, making the relationship less clear.
Although similar to osteoid osteoma, it is larger (between 2 and 6 cm).
Facial femoral syndrome is a rare congenital disorder. It is also known as femoral dysgenesis, bilateral femoral dysgenesis, bilateral-Robin anomaly and femoral hypoplasia-unusual facies syndrome. The main features of this disorder are underdeveloped thigh bones (femurs) and unusual facial features.
Osteoma cutis is a cutaneous condition characterized by the presence of bone within the skin in the absence of a preexisting or associated lesion.
"Maffucci syndrome" is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple simple or cavernous soft tissue hemangiomas. Also lymphangiomas may be apparent.
Patients are normal at birth and the syndrome manifests during childhood and puberty. The enchondromas affect the extremities and their distribution is asymmetrical.
The diagnosis is based on the combination of unusual facial features and the dysplastic or absent femurs.
Diagnosis may be made antenatally.
When a diagnosis of multicystic kidney is made in utero by ultrasound, the disease is found to be bilateral in many cases. Those with bilateral disease often have other severe deformities or polysystemic malformation syndromes. In bilateral cases, the newborn has the classic characteristic of Potter's syndrome.
The bilateral condition is incompatible with survival, as the contralateral system frequently is abnormal as well. Contralateral ureteropelvic junction obstruction is found in 3% to 12% of infants with multicystic kidney and contralateral vesicoureteral reflux is seen even more often, in 18% to 43% of infants. Because the high incidence of reflux, voiding cystourethrography usually has been considered advisable in all newborns with a multicystic kidney.
"Langer-Giedion syndrome" is a very rare genetic disorder caused by a deletion of chromosomal material. Diagnosis is usually made at birth or in early childhood.
The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small head and skeletal abnormalities including bony growths projecting from the surfaces of bones.
Patients usually present with pain and limited range of motion caused by tumor's proximity to the joint space. Swelling may occur, as well, if the tumor has been growing for a long time. Some patients may be asymptomatic until they develop a pathologic fracture at the site of the tumor. They usually originate from the epiphysis of long bones, but in rare cases, they may arise from anterior arc of the ribs.
The symptoms may include muscular aches and pains in arms or legs and abdominal pain. Patients may also experience nerve pain which feels like an electric shock due to weight bearing.
Patients who have malignant gliomas of the optic nerve have rapidly progressive, painful visual loss accompanied by signs of an optic neuropathy. Initial visual loss may be unilateral or bilateral (chiasmal involvement), but rapid progression to bilateral blindness and death are constant features. Depending on the initial location of the tumor, visual loss may be accompanied by exophthalmos, extraocular motility
Optic nerve melanocytoma does not usually produce symptoms or grow. If they slowly grow, optic nerve melanocytoma can produce afferent pupillary defects (30%), subretinal fluid (10%), and an enlarged blind spot (75%).
On fundoscopic exam, the optic disc may be swollen, atrophic, or even normal. Central retinal vein occlusion may occur.
If the tumor is next to the optic nerve, growth can compress the nerve and cause gradual loss of vision and unilateral proptosis. Dyschromatopsia may occur. Growth can also cause compressive vascular problems like central retinal vein occlusion. Lastly, growth also causes the tumor to exceed its blood supply. In these cases, necrotic areas form inside the tumor. Necrosis can (in turn) cause intraocular and rarely orbital inflammation.
Sturge–Weber syndrome or Sturge–Weber–Krabbe disease, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors). Sturge Weber Syndrome can be classified into three different types. Type 1 includes facial and leptomeningeal angiomas as well as the possibility of glaucoma or choroidal lesions. Normally, only one side of the brain is affected. This type is the most common. Type 2 involvement includes a facial angioma (port wine stain) with a possibility of glaucoma developing. There is not any evidence of brain involvement. Symptoms can show at any time beyond the initial diagnosis of the facial angioma. The symptoms can include glaucoma, cerebral blood flow abnormalities and headaches. More research is needed on this type of Sturge Weber Syndrome. Type 3 has leptomeningeal angioma involvement exclusively. The facial angioma is absent and glaucoma rarely occurs. This type is only diagnosed via brain scan.
Sturge-Weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (i.e., does not have a hereditary cause). It is caused by a somatic activating mutation occurring in the GNAQ gene. Radiological findings will show tram track calcifications on CT, bilaterally.
Angioid streaks are often associated with pseudoxanthoma elasticum (PXE), but have been found to occur in conjunction with other disorders, including Paget's disease, Sickle cell disease and Ehlers-Danlos Syndrome. These streaks can have a negative impact on vision due to choroidal neovascularization or choroidal rupture. Also, vision can be impaired if the streaks progress to the fovea and damage the retinal pigment epithelium.
An optic nerve melanocytoma is a tumor made up of melanocytes and melanin. These tumors are typically a benign; they can grow, but rarely transform into a malignancy. Even so, local growth can affect adjacent tissues.
The onset of ocular symptoms are usually preceded by episode of viral or flu-like symptoms such as fever, cough or sore throat (however this is not always the case). Patients can typically present erythema nodosum, livido reticularus, bilateral uveitis, and sudden onset of marked visual loss associated with the appearance of multiple lesions in the retina. These lesions may be colored from grey-white to cream-shaded yellow.
Other symptoms include scotomata and photopsia. In weeks to a month times the lesions begin to clear and disappear (with prednisone) leaving behind areas of retinal pigment epithelial atrophy and diffuse fine pigmentation (scarring). Rarely choroidal neovascularization occur as a late onset complication.
Raccoon eye/eyes (also known in the United Kingdom and Ireland as panda eyes) or periorbital ecchymosis is a sign of basal skull fracture or subgaleal hematoma, a craniotomy that ruptured the meninges, or (rarely) certain cancers. Bilateral hemorrhage occurs when damage at the time of a facial fracture tears the meninges and causes the venous sinuses to bleed into the arachnoid villi and the cranial sinuses. In layman's terms, blood from skull fracture seeps into the soft tissue around the eyes. Raccoon eyes may be accompanied by Battle's sign, an ecchymosis behind the ear. These signs may be the only sign of a skull fracture, as it may not show on an X-ray. They may not appear until up 2–3 days after the injury. It is recommended that the patient not blow their nose, cough vigorously, or strain to prevent further tearing of the meninges.
Raccoon eyes may be bilateral or unilateral. If bilateral, it is highly suggestive of basilar skull fracture, with a positive predictive value of 85%. They are most often associated with fractures of the anterior cranial fossa.
Raccoon eyes may also be a sign of disseminated neuroblastoma or of amyloidosis (multiple myeloma).
Depending on cause, raccoon eyes always require urgent consultation and management, that is surgical (facial fracture or post-craniotomy) or medical (neuroblastoma or amyloidosis).