Erythroderma desquamativa of Leiner: A rare skin disorder characterized by a reddish, thickened skin rash that spreads to various parts of the body and is usually accompanied by diarrhea, failure to thrive, anemia and recurring local and systemic infections.
Erythroderma lethal congenital: A rare disorder which results in death within a year of birth and involves skin and growth problems.
Erythrokeratodermia ataxia: A rare inherited condition characterized by skin and nervous system disorders.
Erythrokeratodermia progressive symmetrica ichthyosis: A rare condition characterized by symmetrical red scaly skin patches
Erythrokeratodermia symmetrica progressiva: A rare inherited skin disease with characteristic skin lesions usually found on hands and feet but can be found on other parts of the body.
Erythrokeratodermia variabilis ichthyosis: A very rare type of inherited skin scaling disease characterized by transient patches of red skin of varying size and shape as well as patches of thickened skin.
Erythrokeratodermia variabilis, Mendes da Costa type: A rare inherited disorder characterized by short-lived red patches on the skin and thickening of the skin.
Erythrokeratodermia with ataxia: A rare syndrome characterized by the association of a skin disorder with slowly progressive neurological symptoms.
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 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 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: 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: A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine.
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 (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 (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 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.
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.
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 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 (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.
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 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 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: 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.
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 (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.
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%.
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 - anetodermia - brachydactyly type E: A rare syndrome characterized mainly by bone growths, a skin disorder and short foot bones.