Diseases

Erythrokeratodermia with ataxia

Erythrokeratodermia with ataxia: A rare syndrome characterized by the association of a skin disorder with slowly progressive neurological symptoms.

Erythromelalgia

Erythromelalgia is a rare disorder in which blood vessels, usually in the lower extremities, are episodically blocked and inflamed. It is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a pain episode so debilitating that it can impede everyday activities such as wearing shoes and walking. Pain episodes can prevent an affected person from going to school or work regularly. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary EM). Erythromelalgia is often considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.

Erythroplakia

Erythroplakia is a flat red patch or lesion in the mouth that cannot be attributed to any other pathology. A similar term is "erythroplasia", which has a papular appearance.

Erythropoietic Protoporphyria

Erythropoietic protoporphyria is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by impaired activity of ferrocheletase (FECH), an important enzyme in heme production. This results in the build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually liver. Build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen.

Escher Hirt syndrome

Escher-Hirt syndrome: A very rare syndrome characterized by thick earlobes and conductive deafness due to an inner ear structure abnormality. The deafness is non-progressive and occurs at birth.

Escobar syndrome- type B

Escobar syndrome, type B: A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine.

Esophageal atresia

Esophageal atresia is a disorder of the digestive system in which the esophagus does not develop properly. The esophagus is the tube that normally carries food from the mouth to the stomach

Esophageal atresia associated anomalies

Esophageal atresia (EA) is a fairly common congenital disorder, its incidenceranging between 1/4000 and 1/5000 births. EAresults from the unsuccessfulseparation of the primitive foregut into the ventral respiratory and dorsal di-gestive tracts; this process is usually completed by the eighth week of gesta-tion. Associated congenital anomalies are present in approximately 50% ofinfants with EA 1 2 and seem to be responsible for most of the related mor-bidity and mortality. The recent advances in surgical, anesthesiologic andpreoperative management have remarkably improved the survival rate in theabsence of associated anomalies.

Esophageal atresia coloboma talipes

Esophageal atresia (EA) is the most frequent congenital anomaly of the esophagus, affecting ≈1/4,000 neonates. Of these, >90% have an associated tracheoesophageal fistula (TEF). In the most common form of EA, the upper esophagus ends in a blind pouch and the TEF is connected to the distal esophagus. This defect has survival rates of >90%, owing largely to improved neonatal intensive care, earlier recognition, and appropriate intervention. Infants weighing

Esophageal cancer

Esophageal cancer is a cancer of the esophagus, the hollow tube that carries food and liquids from the throat to the stomach. As the cancer grows, symptoms may include painful or difficult swallowing, weight loss and coughing up blood. There are two subtypes: squamous cell cancer and adenocarcinoma. Squamous cell cancer arises from the cells that line the upper part of the esophagus. Adenocarcinoma arises from glandular cells that are present at the junction of the esophagus and stomach. Esophageal tumors usually lead to dysphagia (difficulty swallowing), pain and other symptoms, and are diagnosed with biopsy. Small and localized tumors are treated surgically with curative intent. Larger tumors tend not to be operable and hence cannot be cured; their growth can still be delayed with chemotherapy, radiotherapy or a combination of the two. In some cases chemo- and radiotherapy can render these larger tumors operable. Prognosis depends on the extent of the disease and other medical problems, but is fairly poor.

Esophageal disorder

Heartburn is the most common ailment of the esophagus. Officially known as reflux esophagitis or gastroesophageal reflux disease (GERD), heartburn is caused by acidic stomach juices irritating the lower esophagus. Normally these digestive chemicals remain in your stomach until they pass downward into the intestines. But when the valve at the top of your stomach (called the lower esophageal sphincter (LES)) doesn't close, they can reflux upward. Unlike the stomach lining, the lower esophagus is not protected from the corrosive effects of stomach acid. The result is a chemical burn.

Esophageal duodenal atresia abnormalities of hands

Fonkalsrud reviewed 503 cases of congenital duodenal obstruction treated between 1957 and 1967.1 Of patients who were surgically treated, 64% survived. Deaths were attributed to associated malformations, respiratory complications, prematurity, and anastomotic complications. More recent survival rates for infants born with duodenal atresia or stenosis are approximately 90-95%.2, 3 Increased survival rates can be attributed to advances in respiratory care, hyperalimentation, improved pediatric anesthesia, improvements in the recognition and management of associated anomalies, and more refined surgical techniques (eg, the diamond-shaped anastomosis4).

Esophageal neoplasm

Esophageal cancer is malignancy of the esophagus. There are various subtypes, primarily squamous cell cancer and adenocarcinoma. Squamous cell cancer arises from the cells that line the upper part of the esophagus. Adenocarcinoma arises from glandular cells that are present at the junction of the esophagus and stomach.

Esophageal Squamous Cell Carcinoma

Esophageal squamous cell carcinoma (ESCC) is among the most deadly forms of human malignancy characterized by late stage diagnosis, metastasis, therapy resistance and frequent recurrence. Clinical management of ESCC remains challenging and the disease presently lacks approved targeted therapeutics.

Esophageal varices

In medicine (gastroenterology), esophageal varices are extremely dilated sub-mucosal veins in the esophagus. They are most often a consequence of portal hypertension, such as may be seen with cirrhosis; patients with esophageal varices have a strong tendency to develop bleeding.

Esotropia

Esotropia is a form of strabismus, or "squint," in which one or both eyes turns inward. The condition can be constantly present, or occur intermittently, and can give the affected individual a "cross-eyed" appearance. Esotropia is sometimes erroneously called "lazy eye," which describes the condition of amblyopia—a reduction in vision of one or both eyes that is not the result of any pathology of the eye and cannot be resolved by the use of corrective lenses. Amblyopia can, however, arise as a result of esotropia occurring in childhood: In order to relieve symptoms of diplopia or double vision, the child's brain will ignore or "suppress" the image from the esotropic eye, which when allowed to continue untreated will lead to the development of amblyopia. Treatment options for esotropia include glasses to correct refractive errors (see accommodative esotropia below), the use of prisms and/or orthoptic exercises and/or eye muscle surgery.

Essential hypertension

Essential hypertension is blood pressure that is consistently higher than normal when no cause for the high blood pressure can be found. Most experts believe that essential hypertension is caused by several undiscovered factors, which may be why certain treatments lower blood pressure in some people but not others

Essential iris atrophy

Essential iris atrophy: A very rare progressive eye disorder involving pupil abnormalities and degeneration of the iris. It is a slowly developing disorder that usually only affects one eye.

Essential thrombocytopenia

Thrombocytopenia (or -paenia, or thrombopenia in short) is the presence of relatively few platelets in blood. Generally speaking, in humans, a normal platelet count ranges from 150,000 and 450,000 per mm3.These limits, however, are determined by the 2.5th lower and upper percentile, and a deviation does not necessarily imply any form of disease. The number of platelets in a blood sample also decreases rather quickly with time and a low platelet count may be caused by a delay between sampling and analysis.

Essential thrombocytosis

Essential thrombocytosis (ET, also known as essential thrombocythemia) is a rare chronic blood disorder characterized by the overproduction of platelets by megakaryocytes in the bone marrow in the absence of an alternative cause. In some cases this disorder may be progressive, and rarely may evolve into acute myeloid leukemia or myelofibrosis. It is one of four myeloproliferative disorders.

Essential Tremor

ET is one of the most common movement disorders. ET is a neurological disorder that causes the hands, head, voice, legs, or trunk to shake rhythmically. Up to 10 million people in the United States and many millions of more people worldwide have ET. While tremor is more commonly seen in older people, ET can affect anyone at any time between early childhood and old age. Researchers estimate that 4 to 5.6% of people aged 40 to 60 have ET. The prevalence rate for people aged 60 and older is estimated at 6.3 to 9%.

Ewing sarcoma

It occurs between the ages of 5 and 30 with a peak of incidence between ages 12 and 18. The most frequent symptom is pain. Other symptoms depend on the organs closest to the tumor: motor, sphincteric disorders caused by nervous compression or mechanical disorders are associated with pelvic tumors; respiratory disorders or pleural effusion are associated with costal tumors; medullar or radicular compression are associated with vertebral tumors. The tumor initially develops most frequently in bone, particularly in the pelvis (30%), thorax (rib, clavicle, scapula) (20%), femur (16%), tibia (9%), vertebrae (8%) and humerus (5%). The disease has a high potential for metastases (lung, bone, bone marrow). Neuroepithelioma is a highly differentiated neural variant (see this term). Askin’s tumor is a thoracic variant which can be slightly or well differentiated.

Exostoses- multiple

Hereditary multiple exostoses (HME) is characterized by growths of multiple exostoses, benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones. Exostoses can be associated with a reduction in skeletal growth, bony deformity, restricted motion of joints, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by twelve years of age. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%).

Exostoses- multiple- type 1

Exostoses, multiple, type 1: Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type I differs from type II and III in the location of the genetic defect that causes the disorder. Type I tends to involve more bone growths and shorter arm and leg bones.

Exostoses- multiple- type 2

Exostoses, multiple, type 2: Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type II differs from type I and III in the location of the genetic defect that causes the disorder. Type I tends to be less severe than type I.

Exostoses- multiple- type 3

Exostoses, multiple, type 3: Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type II differs from type I and III in the location of the genetic defect that causes the disorder. Type I tends to be less severe than type I.

Exstrophy of the bladder

Bladder exstrophy, more properly, the exstrophy-epispadias complex is a rare congenital anomality occurring once every 40,000-50,000 live births with a 2:1 male:female ratio. The diagnosis involves a spectrum of anomalies of the lower abdominal wall, bladder, anterior bony pelvis, and external genitalia. It occurs due to failure of the abdominal wall to close during fetal development and results in protrusion of the posterior bladder wall through the lower abdominal wall.

Exstrophy of the bladder-epispadias

Exstrophy of the bladder is a complex combination of disorders that occurs during fetal development. The disorder usually involves many systems in the body, including the urinary tract, skeletal muscles and bones, and the digestive system. Bladder exstrophy means that the bladder is essentially inside out and exposed on the outside of the abdomen. Because the bladder and other structures are exposed to the outside of the body, urine constantly trickles onto the skin causing local irritation.