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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)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Esophageal cancer may be due to either squamous cell carcinoma (ESCC) or adenocarcinoma (EAC). SCCs tend to occur closer to the mouth, while adenocarcinomas occur closer to the stomach. Dysphagia (difficulty swallowing, solids worse than liquids) and painful swallowing are common initial symptoms. If the disease is localized, surgical removal of the affected esophagus may offer the possibility of a cure. If the disease has spread, chemotherapy and radiotherapy are commonly used.
Primary squamous cell thyroid carcinoma shows an aggressive biological phenotype resulting in poor prognosis for patients.
People over 20 years of age with Birt–Hogg–Dubé syndrome have an increased risk of developing slow-growing kidney tumors (chromophobe renal carcinoma and renal oncocytoma, respectively), kidney cysts, and possibly tumors in other organs and tissues. These tumors often occur in both kidneys and in multiple locations in each kidney. The average number of kidney tumors found in a person with BHD is 5.3, though up to 28 tumors have been found. Hybrid oncocytoma/chromophobe carcinoma, found in 50% of cases, is the most commonly found cancer, followed by chromophobe renal carcinoma, clear cell renal carcinoma, renal oncocytoma, and papillary renal cell carcinoma. People over 40 years old and men are more likely to develop kidney tumors, which are diagnosed at a median age of 48. Kidney cancer associated with BHD have been diagnosed in people at ages as young as 20.
In general, people with Birt–Hogg–Dubé syndrome are at roughly seven times the risk of kidney cancer compared to the unaffected population. Estimates of the incidence among people with the disease range from 14%–34%. Rarely, it is associated with clear cell renal cell carcinoma and papillary renal cell carcinoma. If it develops in someone with BHD, renal cell carcinoma occurs later in life and has a poor prognosis. Though the types of tumor typically associated with BHD are considered less aggressive, cases of advanced or metastatic kidney cancer have been observed in people with the syndrome. Both benign and cancerous tumors can reduce kidney function over time as they grow larger.
Neoplasms of the nailbed may often present with paronychia, ingrown nail, onycholysis, pyogenic granuloma, nail-plate dystrophy, longitudinal erythronychia, bleeding, and discolorations. There are various benign and malignant neoplasms that may occur in or overlying the nail matrix and in the nailbed, and symptoms may include pain, itching, and throbbing.
Benign tumors of the nails include verruca, pyogenic granuloma, fibromas, nevus cell nevi, myxoid cysts, angiofibromas (Koenen tumors), and epidermoid cysts.
Squamous cell carcinoma of the nailbed is uncommon, and often mistaken for a pyogenic granuloma initially. Subungual melanoma is frequently diagnosed late in the course of growth.
Birt–Hogg–Dubé syndrome affects the skin and increases the risk of tumors in the kidneys and lungs. The condition is characterized by multiple noncancerous dome-shaped tumors of the hair follicles (fibrofolliculomas), particularly on the face, neck, and—more rarely—the upper chest. The fibrofolliculomas are generally described as having an opaque white color or a yellowish tone and have a waxy, smooth texture. The tumors are always found on and around the nose and on and behind the outer ear. Typically, they first appear in a person's 20s or 30s, and are found in more than 80% of people with the syndrome above the age of 40. The tumors become larger and more numerous over time. Tumors differ between individuals: they may appear merged in plaques, look similar to a comedo with a plug of keratin, or include epidermoid cysts. A large number of tumors on the face can be associated with hyperseborrhea (abnormally elevated sebum production). The presence of fibrofolliculomas on a person's face can cause significant psychological distress.
Other tumors can include trichodiscomas (tumors of the hair disc, which may be identical to fibrofolliculomas), angiofibromas, and perifollicular fibromas. However, angiofibromas are more common in tuberous sclerosis. Along with the tumors, other skin conditions are seen in people with Birt–Hogg–Dubé syndrome. Approximately 40% of people or families with the disease have papules in their mouth, which can be located on the cheeks (buccal mucosa), tongue, gums, or lips. Either white or mucosa-colored, they are discrete, small, and soft and consist of fibrous tissue covered in thickened epithelium. Collagenomas of the skin are also found in some families. Many people with BHD have skin lesions that appear to be acrochordons (skin tags), but may instead be fibrofolliculomas. These lesions are usually found in the armpit, on the eyelids, and in folds of skin. Not all individuals develop the facial tumors; some families with the mutation that causes BHD develop only kidney tumors or spontaneous pneumothorax.
Symptoms of anal cancer can include pain or pressure in the anus or rectum, a change in bowel habits, a lump near the anus, rectal bleeding, itching or discharge. Bleeding may be severe.
Anal cancer is a cancer (malignant tumor) which arises from the anus, the distal opening of the gastrointestinal tract. It is a distinct entity from the more common colorectal cancer.
Anal cancer is typically an anal squamous cell carcinoma that arises near the squamocolumnar junction, often linked to human papillomavirus (HPV) infection. It may be keratinizing (basaloid) or non-keratinizing (cloacogenic). Other types of anal cancer are adenocarcinoma, lymphoma, sarcoma or melanoma. From data collected 2004-2010, the relative five year survival rate in the United States is 65.5%, though individual rates may vary depending upon the stage of cancer at diagnosis and the response to treatment.
On the shaft of the penis, Fordyce spots are more visible when the skin is stretched, and may only be noticeable during an erection.
The spots can also appear on the skin of the scrotum.
Oral Fordyce granules appear as rice-like granules, white or yellow-white in color. They are painless papules (small bumps), about 1–3 mm in greatest dimension. The most common site is along the line between the vermilion border and the oral mucosa of the upper lip, or on the buccal mucosa (inside the cheeks) in the commissural region, often bilaterally. They may also occur on the mandibular retromolar pad and tonsillar areas, but any oral surface may be involved. There is no surrounding mucosal change. Some patients will have hundreds of granules while most have only one or two.
Occasionally, several adjacent glands will coalesce into a larger cauliflower-like cluster similar to sebaceous hyperplasia of the skin. In such an instance, it may be difficult to determine whether or not to diagnose the lesion as sebaceous hyperplasia or sebaceous adenoma. The distinction may be moot because both entities have the same treatment, although the adenoma has a greater growth potential. Sebaceous carcinoma of the oral cavity has been reported, presumably arising from Fordyce granules or hyperplastic foci of sebaceous glands.
In some persons with Fordyce spots, the glands express a thick, chalky discharge when squeezed.
Normally, sebaceous glands are only found in association with a hair follicle.
They appear to be more obvious in people with oily skin types, with some rheumatic disorders, and in hereditary nonpolyposis colorectal cancer. In the latter, the most common site for Fordyce spots is the lower gingiva (gums) and vestibular mucosa.
An epidermoid cyst is a benign cyst usually found on the skin. The cyst develops out of ectodermal tissue. Histologically, it is made of a thin layer of squamous epithelium.
Review of past cases, patients often do not exhibit many symptoms or obtain a diagnosis until they are around 20 to 40 years old. If the patient does show symptoms, it is most likely due to pressure from growth of the tumor. Depending on which part the epidermoid is pressing against can result in varying symptoms.
- Headaches – often worse in the morning or by changing positions; can be constant and become more severe or more frequent; not your typical headache
- Vision problems like blurred vision, double vision, or loss of peripheral vision
- Loss of sensation or movement in the arms, legs, or face
- Dizziness or difficulty with balance and walking, unsteadiness, vertigo
- Speech difficulties
- Confusion in everyday matters or disorientation
- Seizures, especially in someone who hasn’t had seizures before
- Hearing loss or buzzing or ringing in the ear
- Swallowing or speech difficulty
- Fatigue or sleepiness especially in children
Many 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 meters, 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. 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 that forms the dermis and subcutaneous tissues.
The epidermis is the most superficial layer of skin, a squamous epithelium with several strata: the stratum corneum, stratum lucidum, stratum granulosum, stratum spinosum, and stratum basale. Nourishment is provided to these layers by diffusion from the dermis, since the epidermis is without direct blood supply. The epidermis contains four cell types: keratinocytes, melanocytes, Langerhans cells, and Merkel cells. Of these, keratinocytes are the major component, constituting roughly 95 percent of the epidermis. This stratified squamous epithelium is maintained by cell division within the stratum basale, in which differentiating cells slowly displace outwards through the stratum spinosum to the stratum corneum, where cells are continually shed from the surface. In normal skin, the rate of production equals the rate of loss; about two weeks are needed for a cell to migrate from the basal cell layer to the top of the granular cell layer, and an additional two weeks to cross the stratum corneum.
The dermis is the layer of skin between the epidermis and subcutaneous tissue, and comprises two sections, the papillary dermis and the reticular dermis. The superficial papillary dermis with the overlying rete ridges of the epidermis, between which the two layers interact through the basement membrane zone. Structural components of the dermis are collagen, elastic fibers, and ground substance. Within these components are the pilosebaceous units, arrector pili muscles, and the eccrine and apocrine glands. The dermis contains two vascular networks that run parallel to the skin surface—one superficial and one deep plexus—which are connected by vertical communicating vessels. The function of blood vessels within the dermis is fourfold: to supply nutrition, to regulate temperature, to modulate inflammation, and to participate in wound healing.
The subcutaneous tissue is a layer of fat between the dermis and underlying fascia. This tissue may be further divided into two components, the actual fatty layer, or panniculus adiposus, and a deeper vestigial layer of muscle, the panniculus carnosus. The main cellular component of this tissue is the adipocyte, or fat cell. The structure of this tissue is composed of septal (i.e. linear strands) and lobular compartments, which differ in microscopic appearance. Functionally, the subcutaneous fat insulates the body, absorbs trauma, and serves as a reserve energy source.
Conditions of the human integumentary system constitute a broad spectrum of diseases, also known as dermatoses, as well as many nonpathologic states (like, in certain circumstances, melanonychia and racquet nails). While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described. Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. Therefore, most current textbooks present a classification based on location (for example, conditions of the mucous membrane), morphology (chronic blistering conditions), etiology (skin conditions resulting from physical factors), and so on. Clinically, the diagnosis of any particular skin condition is made by gathering pertinent information regarding the presenting skin lesion(s), including the location (such as arms, head, legs), symptoms (pruritus, pain), duration (acute or chronic), arrangement (solitary, generalized, annular, linear), morphology (macules, papules, vesicles), and color (red, blue, brown, black, white, yellow). Diagnosis of many conditions often also requires a skin biopsy which yields histologic information that can be correlated with the clinical presentation and any laboratory data.
Gardner syndrome, also known as Gardner's syndrome or familial colorectal polyposis, is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas, as well as the occurrence of desmoid tumors in approximately 15% of affected individuals.
Desmoid tumors are fibrous tumors which usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. The countless polyps in the colon predispose to the development of colon cancer; if the colon is not removed, the chance of colon cancer is considered to be very significant. Polyps may also grow in the stomach, duodenum, spleen, kidneys, liver, mesentery and small bowel. In a small number of cases, polyps have also appeared in the cerebellum. Cancers related to Gardner syndrome commonly appear in the thyroid, liver and kidneys. The number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon.
The syndrome was first described in 1951. There is no cure at this time, and in its more advanced forms, it is considered a terminal diagnosis with a life expectancy of 35–45 years; treatments are surgery and palliative care, although some chemotherapy has been tried with limited success.
The epidermoid cyst may have no symptoms, or it may hurt when touched. It can release pus. It is very common for women on the major or minor labia. In contrast to pilar cysts, epidermoid cysts are usually present on parts of the body with relatively little hair.
Occasionally, an epidermoid cyst will present with Trigeminal neuralgia.
Although they are not malignant, there are rare cases of malignant tumors arising from an epidermoid cyst.
Although testicular cancer can be derived from any cell type found in the testicles, more than 95% of testicular cancers are germ cell tumors (GCTs). Most of the remaining 5% are sex cord-gonadal stromal tumours derived from Leydig cells or Sertoli cells. Correct diagnosis is necessary to ensure the most effective and appropriate treatment. To some extent, this can be done via blood tests for tumor markers, but definitive diagnosis requires examination of the histology of a specimen by a pathologist.
Most pathologists use the World Health Organization classification system for testicular tumors:
- Germ cell tumors
- "Precursor lesions"
- Intratubular germ cell neoplasia
- Unclassified type (carcinoma in situ)
- Specified types
- "Tumors of one histologic type (pure forms)"
- Seminoma
- Variant - Seminoma with syncytiotrophoblastic cells
- Spermatocytic seminoma
- Variant - spermatocytic seminoma with sarcoma
- Embryonal carcinoma
- Yolk sac tumor
- Trophoblastic tumors
- Choriocarcinoma
- Variant - monophasic choriocarcinoma
- Placental site trophoblastic tumour
- Cystic trophoblastic tumor
- Teratoma
- Variant - Dermoid cyst
- Variant - Epidermoid cyst
- Variant - Monodermal teratoma (Carcinoid, Primitive neuroectodermal tumor (PNET), Nephroblastoma-like tumor, others.
- Variant - Teratomic with somatic-type malignancy
- "Tumours of more than one histologic type (mixed forms)"
- Embryonal carcinoma and teratoma
- Teratoma and seminoma
- Choriocarcinoma and teratoma.embryonal carcinoma
- Others
- Sex cord/Gonadal stromal tumors
- Leydig cell tumor
- Sertoli cell tumor
- Lipid rich variant
- Scleriosing variant
- Large cell calcifying variant
- Intratubular sertoli cell neoplasia in Peutz-Jeghers syndrome
- Granulosa cell tumor
- Adult type
- Juvenile type
- Thecoma Fibroma Group
- Thecoma
- Fibroma
- Sex cord/gonadal stromal tumor - incompletely differentiated
- Sex cord/gonadal stromal tumor - mixed types
- Mixed Germ Cell and Sex Cord/Gonadal Stromal Tumors
- Gonadoblastoma
- Germ cell-sex cord/gonadal stromal tumor, unclassified
- Miscellaneous tumours of the testis
- Carcinoid
- Tumors of ovarian epithelial types
- Serous tumor of borderline malignancy
- Serous carcinoma
- Well differentiated endometrioid tumor
- Mucinous cystadenoma
- Mucinous cystadenocarcinoma
- Brenner tumor
- Nephroblastoma
- Paraganglioma
- Haematopoietic tumors
- Tumours of collecting ducts and rete
- Adenoma
- Carcinoma
- Tumors of the paratesticular structures
- Adenomatoid tumor
- Malignant and Benign Mesothelioma
- Adenocarcinoma of the epididymis
- Papillary cystadenoma of the epididymis
- Melanotic neuroectodermal tumor
- Desmoplastic small round cell tumor
- Mesenchymal tumors of the spermatic cord and testicular adnexae
- Lipoma
- Liposarcoma
- Rhabdomyosarcoma
- Aggressive angiomyxoma
- Angiomyofibroblastoma-like tumor (see Myxoma)
- Fibromatosis
- Fibroma
- Solitary fibrous tumor
- Others
- Secondary tumors of the testis
Symptoms of pterygium include persistent redness, inflammation, foreign body sensation, tearing, dry and itchy eyes. In advanced cases the pterygium can affect vision as it invades the cornea with the potential of obscuring the optical center of the cornea and inducing astigmatism and corneal scarring. Many patients do complain of the cosmetic appearance of the eye either with some of the symptoms above or as their major complaint.
Fleischer rings are pigmented rings in the peripheral cornea, resulting from iron deposition in basal epithelial cells, in the form of hemosiderin. They are usually yellowish to dark-brown, and may be complete or broken.
They are named for Bruno Fleischer.
Fleischer rings are indicative of keratoconus, a degenerative corneal condition that causes the cornea to thin and change to a conic shape.
The scalp, ears, back, face, and upper arm, are common sites of sebaceous cysts, though they may occur anywhere on the body except the palms of the hands and soles of the feet. In males a common place for them to develop is the scrotum and chest. They are more common in hairier areas, where in cases of long duration they could result in hair loss on the skin surface immediately above the cyst. They are smooth to the touch, vary in size, and are generally round in shape.
They are generally mobile masses that can consist of:
- Fibrous tissues and fluids,
- A fatty (keratinous) substance that resembles cottage cheese, in which case the cyst may be called "keratin cyst". This material has a characteristic "cheesy" or foot odor smell,
- A somewhat viscous, serosanguineous fluid (containing purulent and bloody material).
The nature of the contents of a sebaceous cyst, and of its surrounding capsule, differs depending on whether the cyst has ever been infected.
With surgery, a cyst can usually be excised in its entirety. Poor surgical technique, or previous infection leading to scarring and tethering of the cyst to the surrounding tissue, may lead to rupture during excision and removal. A completely removed cyst will not recur, though if the patient has a predisposition to cyst formation, further cysts may develop in the same general area.
One of the first signs of testicular cancer is often a lump or swelling in the testes. The U.S. Preventive Services Task Force (USPSTF) recommends against routine screening for testicular cancer in asymptomatic adolescent and adults including routine testicular self-exams. However, the American Cancer Society suggests that some men should examine their testicles monthly, especially if they have a family history of cancer, and the American Urological Association recommends monthly testicular self-examinations for all young men.
Symptoms may also include one or more of the following:
- a lump in one testis which may or may not be painful
- sharp pain or a dull ache in the lower abdomen or scrotum
- a feeling often described as "heaviness" in the scrotum
- breast enlargement (gynecomastia) from hormonal effects of β-hCG
- low back pain (lumbago) due to the cancer spreading to the lymph nodes along the back
It is not very common for testicular cancer to spread to other organs, apart from the lungs. If it has, however, the following symptoms may be present:
- shortness of breath (dyspnea), cough or coughing up blood (hemoptysis) from metastatic spread to the lungs
- a lump in the neck due to metastases to the lymph nodes
Testicular cancer, cryptorchidism, hypospadias, and poor semen quality make up the syndrome known as testicular dysgenesis syndrome.
Gardner syndrome consists of adenomatous polyps of the gastrointestinal tract, desmoid tumours, osteomas, epidermoid cysts, lipomas, dental abnormalities and periampullary carcinomas. The incidence of the syndrome is 1:14,025 with an equal sex distribution. It is determined by the autosomal dominant familial polyposis coli gene (APC) on chromosome
5.
Gardner syndrome can be identified based on oral findings, including multiple impacted and supernumerary teeth, multiple jaw osteomas which give a "cotton-wool" appearance to the jaws, as well as multiple odontomas, congenital
hypertrophy of the retinal pigment epithelium (CHRPE), in addition to multiple adenomatous polyps of the colon. Gardner syndrome is also associated with familial adenomatous polyposis and may manifest as aggressive fibromatosis (desmoid tumors) of the retroperitoneum.
Desmoid tumors arise most frequently from the aponeurosis of the rectus abdominal muscle of multiparous women. The extra-abdominal form is rare and desmoids of the breast may arise in the mammary gland or may occur as an extension of a lesion arising from the muscles of the chest wall. The incidence of mammary desmoid tumours is less than 0.2% of primary breast neoplasms.
In Gardner’s syndrome the incidence ranges from 4% to 17%. Desmoid tumours associated with Gardner’s syndrome have been shown to have an alteration of the β-catenin pathway and over express β-catenin.
It is a characterized by a breakdown or damage of the epithelium of the cornea in a pinpoint pattern, which can be seen with examination with a slit-lamp. Patients may present with non-specific symptoms such as red eye, tearing, foreign body sensation, photophobia and burning.
A pterygium is a pinkish, triangular tissue growth on the cornea of the eye. It typically starts on the cornea near the nose. It may slowly grow but rarely grows so large that the pupil is covered. Often both eyes are involved.
The cause is unclear. It appears to be partly related to long term exposure to UV light and dust. Genetic factors also appear to be involved. It is a benign growth. Other conditions that can look similar include a pinguecula, tumor, or Terrien's marginal corneal degeneration.
Prevention may include wearing sunglasses and a hat if in an area with strong sunlight. Among those with the condition, an eye lubricant can help with symptoms. Surgical removal is typically only recommended if the ability to see is affected. Following surgery a pterygium may recur in around half of cases.
The frequency of the condition varies from 1% to 33% in various regions of the world. It occurs more commonly among males than females and in people who live closer to the equator. The condition becomes more common with age. The condition has been described since at least 1000 BC.
Magnetic resonance imaging (MRI) and computed tomography (CT) brain scans can be used to identify these tumors.
About 90% of pilar cysts occur on the scalp, with the remaining sometimes occurring on the face, trunk and extremities. Pilar cysts are significantly more common in females, and a tendency to develop these cysts is often inherited in an autosomal dominant pattern. In most cases, multiple pilar cysts appear at once.
It results from cholesterol deposits in or hyalinosis of the corneal stroma, and may be associated with ocular defects or with familial hyperlipidemia. It is common in the apparently healthy middle aged and elderly; a prospective cohort study of 12,745 Danes followed up for a mean of 22 years found that it had no clinical value as a predictor of cardiovascular disease.
It can be a sign of disturbance in lipid metabolism, an indicator of conditions such as hypercholesterolemia, hyperlipoproteinemia or hyperlipidemia.
Unilateral arcus is a sign of decreased blood flow to the unaffected eye, due to carotid artery disease or ocular hypotony.
People over the age of 60 may present with a ring-shaped, grayish-white deposit of phospholipid and cholesterol near the peripheral edge of the cornea.
Younger people with the same abnormality at the edge of the cornea would be termed arcus juvenilis.