Exophthalmos (also called exophthalmia) is a bulging of the eye anteriorly out of the orbit. Exophthalmos can be either bilateral (as is often seen in Graves’ Disease) or unilateral (as is often seen in an orbital tumor). Measurement of the degree of exophthalmos is performed using an exophthalmometer. Complete or partial dislocation from the orbit is also possible from trauma or swelling of surrounding tissue resulting from trauma.

In the case of Graves’ Disease, the displacement of the eye is due to abnormal connective tissue deposition in the orbit and extraocular muscles which can be visualized by CT or MRI.[1]

If left untreated, exophthalmos can cause the eye lids to fail to close during sleep leading to corneal dryness and damage. The process that is causing the displacement of the eye may also compress the optic nerve or ophthalmic artery leading to blindness.

Some sources define exophthalmos as a protrusion of the globe greater than 18 mm and proptosis as a protusion equal to or less than 18 mm. (Epstein et al, 2003). Others define “exophthalmos” as protrusion secondary to endocrine dysfunction and “proptosis” as any non-endocrine-mediated protrusion [1].

Anophthalmos Leukemias Cellulitis, Orbital Meningioma, Sphenoid Wing Dacryoadenitis Mucormycosis Dermoid, Orbital Orbital Fracture, Apex Duane Syndrome Orbital Fracture, Floor Fistula, Carotid Cavernous Orbital Fracture, Medial Wall Glaucoma, Juvenile Orbital Fracture, Zygomatic Globe Retraction Ptosis, Adult Hemangioma, Cavernous Ptosis, Congenital Horner Syndrome Thyroid Ophthalmopathy

Exophthalmos is commonly found in dogs. It is a normal condition in brachycephalic (short nosed) dog breeds because of the shallow orbit. However, it can lead to keratitis secondary to exposure of the cornea. Exophthalmos is commonly seen in the Pug, Boston Terrier, Pekingese, and Shih Tzu.

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Ewing sarcoma is a malignant round-cell tumor. It is a rare disease in which cancer cells are found in the bone or in soft tissue. The most common areas in which it occurs are the pelvis, the femur, the humerus, and the ribs.

Because a common genetic locus is responsible for a large percentage of Ewing sarcoma and primitive neuroectodermal tumors, these are sometimes grouped together in a category known as the Ewing family of tumors.[1] The diseases are, however, considered to be different: peripheral primitive neuroectodermal tumors are generally not associated with bones, while Ewing sarcomas are most commonly related to bone.

Ewing sarcoma occurs most frequently in male teenagers, with a male/female ratio of 1.6:1.[2]

Although usually classified as a bone tumor, Ewing sarcoma can have characteristics of both mesodermal and ectodermal origin, making it difficult to classify.[3]

James Ewing (1866-1943) first described the tumor, establishing that the disease was separate from lymphoma and other types of cancer known at that time. [4][5]

Ewing sarcoma is the result of a translocation between chromosomes 11 and 22, which fuses the EWS gene of chromosome 22 to the FLI1 gene of chromosome 11.

EWS/FLI functions as the master regulator.[6]

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Esthesioneuroblastoma is a form of tumor presenting near the nasal cavity. It can cause loss of vision.[1]

It is often considered synonymous with “olfactory neuroblastoma”,[2] but the tissue of origin is not yet well characterized.

It was first characterized in 1924.[3][4]

According to the BBC, only 200 cases of the disease have been recorded worldwide in the past two decades.[5]

A 1997 literature search identified 1,457 cases in the published literature since it’s discovery in 1924, however 487 were cited in more than one paper, bringing the total of reported cases to 945.[6]

Several surgical approaches have been described,[7][8][9][10] but post-excision recurrence rates have remained relatively high.

The disease was brought into prominence by the case of Chantal Sébire, who was suffering from the disease and ended her life after being denied euthanasia.[11]

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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.

Esophageal varices are diagnosed with endoscopy.[1]

The majority of blood from the esophagus is drained away via the esophageal veins, which drain deoxygenated blood from the esophagus to the azygos vein which in turn, directly drains into the superior vena cava. These veins have no part in the development of esophageal varices. The remaining blood from the esophagus is drained away via the superficial veins lining the esophagus interior, which drain into the coronary vein (left gastric vein) which in turn, drains directly into the portal vein. These superficial veins lining the esophagus interior (normally only approximately 1mm in diameter) become distended up to 1-2 cm in diameter in association with portal hypertension.

Normal portal pressure is approximately 9 mmHg compared to an inferior vena cava pressure of 2-6 mmHg. This creates a normal pressure gradient of 3-7 mmHg. If the portal pressure rises above 12mmHg, this gradient rises to 7-10 mmHg.[2] A gradient greater than 5 mmHg is considered portal hypertension. At gradients greater than 10 mmHg, blood flow though the hepatic portal system is redirected from the liver into areas with lower venous pressures. This means that collateral circulation develops in the lower esophagus, abdominal wall, stomach and rectum. The small blood vessels in these areas become distended, becoming more thin-walled, and appear as varicosities. In addition, these vessels are poorly supported by other structures, as they are not designed for high pressures.

In situations where portal pressures increase, such as with cirrhosis, there is dilation of veins in the anastomosis, leading to esophageal varices.

Varices can also form in other areas of the body, including the stomach (gastric varices), duodenum (duodenal varices), and rectum (rectal varices). Treatment of these types of varices may differ.

In emergency situations, the care is directed at stopping blood loss, maintaining plasma volume, correcting disorders in coagulation induced by cirrhosis, and appropriate use of antibiotics (as infection is either concomitant, or a precipitant).

Therapeutic endoscopy is considered the mainstay of urgent treatment. Two main therapeutic approaches exist:

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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.[1] 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.[2]

Dysphagia (difficulty swallowing) is the first symptom in most patients. Odynophagia (painful swallowing) may be present. Fluids and soft foods are usually tolerated, while hard or bulky substances (such as bread or meat) cause much more difficulty. Substantial weight loss is characteristic as a result of poor nutrition and the active cancer. Pain, often of a burning nature, may be severe and worsened by swallowing, and can be spasmodic in character. An early sign may be an unusually husky or raspy voice.

The presence of the tumor may disrupt normal peristalsis (the organised swallowing reflex), leading to nausea and vomiting, regurgitation of food, coughing and an increased risk of aspiration pneumonia. The tumor surface may be fragile and bleed, causing hematemesis (vomiting up blood). Compression of local structures occurs in advanced disease, leading to such problems as superior vena cava syndrome. Fistulas may develop between the esophagus and the trachea, increasing the pneumonia risk; this symptom is usually heralded by cough, fever or aspiration.[2]

If the disease has spread elsewhere, this may lead to symptoms related to this: liver metastasis could cause jaundice and ascites, lung metastasis could cause shortness of breath, pleural effusions, etc.

There are a number of risk factors for esophageal cancer.[2] Some subtypes of cancer are linked to particular risk factors:

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Esophageal atresia (or Oesophageal atresia) is a congenital medical condition (birth defect) which affects the alimentary tract. It causes the esophagus to end in a blind-ended pouch rather than connecting normally to the stomach.

Esophageal atresia (EA) is a variety of congenital anatomic defects that are caused by an abnormal embryological development of the esophagus. Anatomically characterized by a congenital obstruction of the light of the esophagus with interrupted the continuity of the esophageal wall. The esophagus is divided into two pouch blind, an upper and lower, which may or may not communicate with the tracheobronchial tree, through fistulous tract called Tracheoesophageal Fistula (TEF).

It occurs in approximately 1 in 4425 live births.

Congenital esophageal atresia (EA) represents a failure of the esophagus to develop as a continuous passage. Instead, it ends as a blind pouch. Tracheoesophageal fistula (TEF) represents an abnormal opening between the trachea and esophagus. EA and TEF can occur separately or together. EA and TEF are diagnosed in the ICU at birth and treated immediately.

The presence of EA is suspected in an infant with excessive salivation (drooling) and in a newborn with drooling that is frequently accompanied by choking, coughing and sneezing. When fed, these infants swallow normally but begin to cough and struggle as the fluid returns through the nose and mouth. The infant may become cyanotic (turn bluish due to lack of oxygen) and may stop breathing as the overflow of fluid from the blind pouch is aspirated (sucked into) the trachea. The cyanosis is a result of laryngospasm (a protective mechanism that the body has to prevent aspiration into the trachea). Over time respiratory distress will develop.

If any of the above signs/symptoms are noticed, a catheter is gently passed into the esophagus to check for resistance. If resistance is noted, other studies will be done to confirm the diagnosis. A catheter can be inserted and will show up as white on a regular x-ray film to demonstrate the blind pouch ending. Sometimes a small amount of barium (chalk-like liquid) is placed through the mouth to diagnose the problems.

Treatment of EA and TEF is surgery to repair the defect. If EA or TEF is suspected, all oral feedings are stopped and intravenous fluids are started. The infant will be positioned to help drain secretions and decrease the likelihood of aspiration. Babies with EA may sometimes have other problems. Studies will be done to look at the heart and spine. Sometimes studies are done to look at the kidneys.

Surgery to fix EA is rarely an emergency. Once the baby is in condition for surgery, an incision is made on the side of the chest. The esophagus can usually be sewn together. Following surgery, the baby may be hospitalized for a variable length of time. Care for each infant is individualized.

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Erythropoietic protoporphyria (EPP) is a relatively mild form of porphyria, although very painful, which arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. The severity varies significantly from individual to individual.

Both autosomal dominant and autosomal recessive inheritance have been reported with this disorder.[1]

A common symptom is very painful photosensitivity, manifesting itself as a burning sensation on the surface of the skin. This usually first presents in childhood, and most often affects the face and the upper surfaces of the hands and feet. Prolonged exposure to the sun can lead to edema and blistering. After many years, chronically sun-exposed skin may become thick and wrinkled. People with EPP are also at increased risk to develop gallstones[2]. In a small percentage of cases, protoporphyrin accumulates to toxic levels in the liver, leading to liver failure.

There is no cure for this disorder; however, symptoms can usually be managed by the simple expedient of limiting sun exposure. Protective clothing is also very helpful; however, since the photosensitivity results from light in the visible spectrum, most sunscreens (with the exception of light-reflecting substances such as zinc oxide) are of little use. Some individuals can decrease their sun sensitivity with daily doses of beta carotene; others gradually build a protective layer of melanin by regularly exposing themselves for short times to ultraviolet radiation. The most severe cases are sometimes treated with liver transplants.

Recently, an Australian pharmaceutical company has begun Phase III clinical trials with a melanocyte-stimulating hormone called melanotan (known by the International Nonproprietary Name afamelanotide, formerly CUV1647)[3] for EPP. [4][5]

Erythropoietic protoporphyria was first identified in 1960 by Magnus et al at the St John’s Institute of Dermatology in London.[6]

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Erysipelas (Greek e??s?pe?a? – red skin) is an acute streptococcus bacterial infection[1] of the dermis, resulting in inflammation and characteristically extending into underlying fat tissue.

This disease is most common among the elderly, infants, and children. People with immune deficiency, diabetes, alcoholism, skin ulceration, fungal infections and impaired lymphatic drainage (e.g., after mastectomy, pelvic surgery, bypass grafting) are also at increased risk.

Patients typically develop symptoms including high fevers, shaking, chills, fatigue, headaches, vomiting, and general illness within 48 hours of the initial infection. The erythematous skin lesion enlarges rapidly and has a sharply demarcated raised edge. It appears as a red, swollen, warm, hardened and painful rash, similar in consistency to an orange peel. More severe infections can result in vesicles, bullae, and petechiae, with possible skin necrosis. Lymph nodes may be swollen, and lymphedema may occur. Occasionally, a red streak extending to the lymph node can be seen.

The infection may occur on any part of the skin including the face, arms, fingers, legs and toes, but it tends to favor the extremities. Fat tissue is most susceptible to infection, and facial areas typically around the eyes, ears, and cheeks. Repeated infection of the extremities can lead to chronic swelling (lymphadenitis).

Most cases of erysipelas are due to Streptococcus pyogenes (also known as group A streptococci), although non-group A streptococci can also be the causative agent. Historically, the face was most affected; today the legs are affected most often. [2]

Erysipelas infections can enter the skin through minor trauma, eczema, surgical incisions and ulcers, and often originate from strep bacteria in the subject’s own nasal passages.

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Erdheim-Chester disease (also known as Erdheim-Chester syndrome or polyostotic sclerosing histiocytosis) is a rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes, or tissue macrophages (technically, this disease is termed a non-Langerhans-cell histiocytosis). Usually, onset is in middle age. The disease involves an infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis (hardening) of the long bones.[1]

The first case of ECD was reported by the American pathologist William Chester in 1930.[2]

ECD affects predominantly adults, with a mean age of 53 years.[3]

Long bone involvement is almost universal in ECD patients and is bilateral and symmetrical in nature. More than 50% of cases have some sort of extraskeletal involvement. This can include kidney, skin, brain and lung involvement, and less frequently retroorbital tissue, pituitary gland and heart involvement is observed. Bone pain is the most frequent of all symptoms associated with ECD and mainly affects the lower limbs, knees and ankles. The pain is often described as mild but permanent, and juxtaarticular in nature. Exophthalmos occurs in some patients and is usually bilateral, symmetric and painless. In most cases it occurs several years before the final diagnosis.

A review of 59 case studies by Veyssier-Belot, C et al. in 1996 reported the following symptoms in order of frequency of occurrence:[3]

Histologically, ECD differs from Langerhans cell histiocytosis (LCH) in a number of ways. Unlike LCH, ECD does not stain positive for S-100 or CD 1a, and electron microscopy of cell cytoplasm does not disclose Birbeck granules.[3] Tissue samples show xanthomatous or xanthogranulomatous infiltration by lipid-laden or foamy histiocytes, and are usually surrounded by fibrosis. Bone biopsy is said to offer the greatest likelihood of reaching a diagnosis.

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Erb’s Palsy (Erb-Duchenne Palsy, Brachial plexus paralysis) is a paralysis of the arm caused by injury to the upper group of the arm’s main nerves (specifically, spinal roots C5-C7), almost always occurring during birth. Depending on the nature of the damage, the paralysis can either resolve on its own over a period of months, necessitate physical therapy or require surgery.[1]

The most common cause of Erb’s palsy is dystocia, an abnormal or difficult childbirth or labour. For example, it can occur if the infant’s head and neck are pulled toward the side at the same time as the shoulders pass through the birth canal.[2]

The condition can also be caused by excessive pulling on the shoulders during a vertex delivery (head first).[2]

A similar injury may be observed in adults or following a traumatic fall on the side of the neck. It can also affect neonates affected by a clavicle fracture unrelated to dystocia.[3]

The paralysis can be partial or complete; the damage to each nerve can range from bruising to tearing. The most commonly involved root is C5 (aka Erb’s point: the union of C5 & C6 roots) as this is mechanically, the furthest point from the force of traction, therefore, the first/most affected.

The most commonly involved nerves are the suprascapular nerve, musculocutaneous nerve, and the axillary nerve.[4]

The injury often leaves patients with stunted growth in the affected arm with everything from the shoulder though to the fingertips smaller than the unaffected arm. This also leaves the patients with impaired muscular, nervous and circulatory development. The lack of muscular development leads to the arm being much weaker than the unaffected one, and less articulate, with many patients unable to lift the arm above shoulder height unaided, as well as leaving many with an elbow contracture.

The lack of development to the circulatory system can leave the arm with almost no ability to regulate its temperature, which often proves problematic during winter months when it would need to be closely monitored to ensure that the temperature of the arm was not dropping too far below that of the rest of the body. However the damage to the circulatory system also leaves the arm with another problem. It reduces the healing ability of the skin, so that skin damage takes far longer than usual to heal, and infections in the arm can be quite common if cuts are not sterlised as soon as possible. This will often cause many problems for children since they often injure themselves in the course of their childhoods.

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