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Eosinophilic Fasciitis

 Eosinophilic Fasciitis Summary Eosinophilic fasciitis is a rare disorder characterized by inflammation of the tough band of fibrous tissue beneath the skin (fascia). The arms and legs are most often affected. Inflammation is caused by the abnormal accumulation of certain white blood cells including eosinophils in the fascia. Eosinophilic fasciitis eventually causes the skin to swell and slowly thicken and harden (induration). The disorder most commonly affects middle-aged adults. The specific symptoms and severity of eosinophilic fasciitis can vary from one individual to another. The exact cause of eosinophilic fasciitis is unknown. Introduction Eosinophilic fasciitis, also known as Shulman syndrome, is named after the physician who, in 1974, was the first to report on the disorder in the medical literature. Some researchers believe that eosinophilic fasciitis is a variant of scleroderma (systemic sclerosis), an autoimmune connective tissue disorder characterized by hardening of t...

Enterobiasis

 Enterobiasis DISEASE OVERVIEW Enterobiasis or pinworm infection is a common, contagious, parasitic infestation found mainly in children. The disorder is spread by swallowing or inhaling the tiny eggs of the pinworm. Enterobiasis rarely causes any serious physical problems except for the main symptom, which is severe rectal itching. SIGNS & SYMPTOMS The major symptom of enterobiasis is itching in the anal area. There may also be restlessness and difficulty sleeping. Secondary bacterial infections may develop in the areas that are constantly scratched and, very infrequently, the vagina may become involved in young girls. Very rarely, enterobiasis may lead to appendicitis or inflammation of the fallopian tubes in females. Many children with enterobiasis show no symptoms (asymptomatic). In rare cases, nausea, loss of appetite, vomiting, involuntary discharge of urine at night (enuresis) or stomach pain may occur. The disorder is usually first identified when live, thin, white pinw...

Eosinophilic Esophagitis

 Eosinophilic Esophagitis Overview Eosinophilic esophagitis (e-o-sin-o-FILL-ik uh-sof-uh-JIE-tis) is a chronic immune system disease. With this disease, a type of white blood cell, called an eosinophil, builds up in the lining of the tube that connects your mouth to your stomach. This tube is also called the esophagus. This buildup, which is a reaction to foods, allergens or acid reflux, can inflame or injure the esophageal tissue. Damaged esophageal tissue can lead to difficulty swallowing or cause food to get stuck when you swallow. Eosinophilic esophagitis has been identified only since the early '90s, but is now considered a major cause of digestive system illness. Research is ongoing and will likely lead to revisions in the diagnosis and treatment of eosinophilic esophagitis. Symptoms Signs and symptoms include: Adults: *Difficulty swallowing, also called dysphagia *Food getting stuck in the esophagus after swallowing, also known as impaction *Chest pain that is often centrall...

Endomyocardial Fibrosis

 Endomyocardial Fibrosis DISEASE OVERVIEW Endomyocardial fibrosis (EMF) is a progressive disease of unknown origin (idiopathic) that may seriously affect the heart. Its most obvious feature is a gross change in the makeup of the lining of the heart cavities (the endocardium) of one or both of the lower chambers of the heart (the ventricles) leading to the replacement of normal cells with fibrous tissue (fibrosis). This process is progressive and leads to the narrowing (constriction) of the right or left ventricular cavities. It may involve the valves between the chambers of the heart as well as the tendon-like cords that fix the valves to the ventricles (chordae tendineae). Loeffler’s disease is a disease of the heart much like endomyocardial fibrosis. Some clinicians regard it as an early stage of EMF, although this idea remains controversial. Loeffler’s disease is a rare disorder of unknown origin, characterized by abnormal increases in the number of particular white blood cells ...

Endocardial Fibroelastosis

 Endocardial Fibroelastosis DISEASE OVERVIEW Endocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (inelastic collagen) and elastic fibers. The normal heart has four chambers. Two chambers, known as atria, are separated from each other by a partition called the atrial septum. The other two chambers, known as ventricles, are also separated by a septum. Valves connect the atria (left and right) to their respective ventricles. The symptoms of endocardial fibroelastosis are related to the overgrowth of fibrous tissues causing abnormal enlargement of the heart (cardiac hypertrophy), especially the left ventricle. Impaired heart and lung function eventually lead to congestive heart failure. Endocardial fibroelastosis may occur for no apparent reason (sporadic) or may be inherited as an X-linked (EFE2) ...

Ellis Van Creveld Syndrome

 Ellis Van Creveld Syndrome DISEASE OVERVIEW Ellis-Van Creveld syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. Motor development and intelligence are normal. This disorder is inherited as an autosomal recessive condition. SIGNS & SYMPTOMS Individuals with Ellis-Van Creveld syndrome typically have arms and legs that are abnormally short while the head and trunk are normal. Extra fingers (polydactyly) are present in all patients with this condition and both hands are usually affected. Ectodermal abnormalities include abnormal development of hair, nails and teeth. More than fifty percent of the patients with Ellis-Van Creveld syndrome are born with malformations of the heart. The most common heart defect is an abnormal opening in the wall between the two upper heart chambers (atrial septal defect). Other types of hear...

Empty Sella Syndrome

 Empty Sella Syndrome DISEASE OVERVIEW Empty sella syndrome is a rare disorder characterized by enlargement or malformation of a structure in the skull known as the sella turcica. The sella turcica is a saddle-shaped depression located in the bone at the base of skull (sphenoid bone), in which resides the pituitary gland. In empty sella syndrome, the sella turcica is either partially filled with cerebrospinal fluid and a very small associated pituitary gland lying in the floor of the sella (partially empty sella) or completely filled with cerebrospinal fluid with no visualized pituitary gland (completely empty sella). Most individuals with empty sella syndrome do not have any associated symptoms, but the finding raises concerns about hormone deficiencies. Empty sella syndrome may occur as a primary disorder, for which the cause is unknown (idiopathic), or as a secondary disorder, in which it occurs due to an underlying condition or disorder such as a treated pituitary tumor, head t...