Diseases

Ermine phenotype

Ermine phenotype: A very rare syndrome characterized by pigmentation abnormalities as well as deafness.

Eronen Somer Gustafsson syndrome

Eronen-Somer-Gustafsson syndrome (medical condition): A very rare syndrome characterized by numerous abnormalities involving the brain, kidneys, fingers, toes, nails and face as well as mental retardation and vision impairment.

Erosive pustular dermatosis of the scalp

Erosive pustular dermatosis of the scalp is a condition in which tiny pustules form on the scalp, forehead or temples of the elderly. A similar condition may arise on the legs. Erosive pustular dermatosis of the scalp affects severely sun damaged skin usually in areas of scarring such as after injury, skin cancer surgery or shingles.

Erysipelas

Erysipelas: A severe streptococcal bacterial infection where infection spreads from the skin to tissue underneath. The face and extremities are the usual sites affected.

Erythema elevatum diutinum

Erythema elevatum diutinum: A rare chronic skin disorder characterized by skin nodules and plaques near joints and on the back of the hands and feet.

Erythema multiforme

Erythema multiforme: An allergic inflammatory skin disorder which has a variety of causes and results in skin and mucous membrane lesions that affect mainly the hands, forearms, feet, mouth nose and genitals.

Erythema nodosum- familial

Erythema nodosum, familial: A nodular inflammation of the fatty layer under the skin that tends to occur in a familial pattern. The skin nodules are most often located on the shins.

Erythema nodosum- idiopathic

Erythema nodosum, idiopathic: A nodular inflammation of the fatty layer under the skin that occurs for no apparent reason. The condition often resolves itself and is believed to be a hypersensitivity reaction. The skin nodules are most often located on the shins.

Erythermalgia

Erythermalgia: A disorder involving periodic burning, redness and increased temperature in the extremities. Exercise, standing for long periods and heat can trigger an episode.

Erythroblastopenia

Erythroblastopenia: A form of anemia involving the absence of red blood cell precursors which results in a low red blood cell count. The blood abnormality may be congenital or acquired through such things as particular viral infections or drug use. Without treatment, symptoms become progressively worse.

Erythroderma desquamativa of Leiner

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

Erythroderma lethal congenital: A rare disorder which results in death within a year of birth and involves skin and growth problems.

Erythrokeratodermia ataxia

Erythrokeratodermia ataxia: A rare inherited condition characterized by skin and nervous system disorders.

Erythrokeratodermia symmetrica progressiva

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

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 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.