edgepedia

Human health and medicine

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Epidermolysis bullosa acquisita

Epidermolysis bullosa acquisita (EBA) is a rare autoimmune subepidermal blistering disease caused by IgG autoantibodies against type VII collagen, distinct from inherited epidermolysis bullosa, with mechanobullous and inflammatory forms and an association with Crohn's disease.

Epidermolysis bullosa simplex with mottled pigmentation

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP, OMIM 131960) is a rare autosomal dominant KRT5-related skin-fragility disorder with neonatal blistering, later reticulate hyperpigmentation that fades in adulthood, keratoderma, and nail dystrophy.

Epidermolysis bullosa simplex with muscular dystrophy

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD, OMIM 226670) is a rare autosomal recessive plectinopathy caused by PLEC mutations, featuring neonatal skin blistering, nail dystrophy, and later-onset progressive muscular dystrophy.

Epidermolysis bullosa simplex with pyloric atresia

Epidermolysis bullosa simplex with pyloric atresia (EBS-PA, OMIM 612138) is a rare autosomal recessive skin-fragility disorder with congenital pyloric atresia, caused by PLEC, ITGB4, or ITGA6 mutations and usually fatal in infancy.

Epidermolytic nevus

Epidermolytic nevus (epidermal nevus with epidermolytic hyperkeratosis) is a rare mosaic birth defect: verrucous Blaschko-linear skin lesions with EHK histology, no extracutaneous involvement, and risk of transmitting bullous ichthyosiform erythroderma.

Epidermolytic palmoplantar keratoderma

Epidermolytic palmoplantar keratoderma (EPPK, Vörner's keratosis, OMIM 144200) is a rare autosomal dominant skin disease causing yellow thickening of palms and soles with erythematous borders, caused mostly by KRT9 mutations.

Epididymis

Epididymis: convoluted duct connecting testis to vas deferens, with initial segment, caput, corpus, and cauda regions; site of mammalian sperm maturation, concentration, protection, and storage via epididymosomes.

Epididymitis

Epididymitis, inflammation of the epididymis behind the testicle, acute (<6 weeks) or chronic; caused by chlamydia, gonorrhea, or E. coli; treated with ceftriaxone plus doxycycline or levofloxacin; torsion is the key differential.

Epidural administration

Epidural administration injects local anesthetics or opioids into the epidural space between dura mater and vertebral canal. Pioneered by Corning (1885), Sicard and Cathelin (1901), and Fidel Pagés (1921); used for labor, surgery, and postoperative pain.

Epidural Blood Patch

Epidural blood patch (EBP): injection of a patient's own blood, typically 10–20 mL, into the epidural space to seal dural punctures and CSF leaks; first reported by Gormley in 1960; treats post-dural puncture headache and spontaneous intracranial hypotension.

Epidural hematoma

Epidural hematoma (EDH, extradural hematoma): blood between skull and dura, usually from middle meningeal artery tear after skull fracture. Biconvex on CT, lucid interval in under 20%, surgery if over 30 cm3 per Brain Trauma Foundation.

Epidural steroid injection

An epidural steroid injection delivers a corticosteroid, often with local anesthetic, into the epidural space around spinal nerves to relieve radicular pain from disc herniation and spinal stenosis.

Epigastric hernia

Epigastric hernia: a ventral hernia through the linea alba between the xiphoid process and umbilicus, usually containing preperitoneal fat, 2-3 times more common in men, repaired surgically, often with mesh.

Epigastrium

Epigastrium (regio epigastrica): the upper central abdominal region below the sternum, above the umbilicus, flanked by the hypochondriac regions. Contains stomach, liver, pancreas, duodenum; epigastric pain (ICD-10 R10.13) has a broad differential including cardiac causes.

Epigenetic clock

An epigenetic clock is a biomarker method estimating biological age from DNA methylation patterns, used in aging research to assess disease risk and aging rate.

Epigenetic therapy

Epigenetic therapy is a class of cancer treatment that uses drugs such as azacitidine and decitabine to reverse abnormal DNA methylation and histone modifications, reprogramming tumor cells rather than killing them.

Epiglottis

The epiglottis, or epiglottic cartilage, is a leaf-shaped flap of elastic cartilage behind the tongue that folds over the windpipe during swallowing, its infection called epiglottitis.

Epiglottitis

Acute epiglottitis (supraglottitis): rapidly progressive bacterial infection of the epiglottis causing airway obstruction. Once mainly Hib in children, now mostly adult disease; treated with airway protection, ceftriaxone, steroids.

Epikeratophakia

Epikeratophakia (epikeratoplasty, onlay lamellar keratoplasty): historical refractive corneal surgery introduced by Kaufman, Werblin, and Klyce at LSU around 1980, in which a prelathed donor corneal lenticule is sutured onto the de-epithelialized cornea to correct aphakia, myopia, or keratoconus; now largely abandoned.

Epilepsy

Epilepsy, a chronic noncommunicable brain disorder also called a seizure disorder, is defined by recurrent unprovoked seizures. About 50 million people are affected worldwide; up to 70% could become seizure-free with antiseizure medicines, and surgery helps drug-resistant focal cases.

Epilepsy of infancy with migrating focal seizures

EIMFS, also called malignant migrating partial seizures of infancy, is a rare genetic epileptic encephalopathy with drug-resistant focal seizures migrating between hemispheres, onset before 6 months, KCNT1 mutations in many cases, and severe developmental impairment.

Epilepsy research

Epilepsy Research (Epilepsy Res., ISSN 0920-1211) is an Elsevier peer-reviewed journal, published in Amsterdam since 1987, covering basic, clinical, and translational epilepsy research across disciplines.

Epilepsy with auditory features

Epilepsy with auditory features (EAF), formerly ADLTE or ADPEAF, is a focal epilepsy syndrome with auditory seizures or receptive aphasia from lateral temporal onset, onset typically age 10-30, linked to LGI1 and other genes.

Epilepsy with eyelid myoclonia

Epilepsy with eyelid myoclonia (EEM), formerly Jeavons syndrome, a rare childhood-onset genetic generalized reflex epilepsy with eyelid myoclonia, eye closure and light triggers, photosensitivity, female predominance, and frequent drug resistance.

Epilepsy with generalized tonic-clonic seizures alone

Epilepsy with generalized tonic-clonic seizures alone (EGTCS, GTCA), formerly GTCS on awakening, is a genetic generalized epilepsy syndrome with tonic-clonic seizures as the only seizure type, onset at 5–40 years, and mandatory 3–5.5 Hz spike-wave on EEG.

Epilepsy with myoclonic absences

Epilepsy with myoclonic absences (EMA, ORPHA:86911, ICD-11 8A61.23) is a rare childhood-onset generalized epilepsy with rhythmic 3-Hz myoclonic absence seizures, male predominance, and variable prognosis.

Epilepsy with myoclonic-atonic seizures

Epilepsy with myoclonic-atonic seizures (EMAtS, Doose syndrome, myoclonic-astatic epilepsy) is a rare childhood epilepsy syndrome with myoclonic-atonic drop seizures, 2-6 Hz spike-wave EEG, male predominance, and remission in about two thirds of children.

Epilepsy-mild cortical malformation-oligodendroglial hyperplasia

MOGHE (mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy) is an ILAE-recognized cause of childhood drug-resistant epilepsy, defined by white-matter heterotopic neurons, Olig2-positive oligodendroglial hyperplasia, and somatic SLC35A2 variants.

Epileptic encephalopathies

Epileptic encephalopathies, now often termed developmental and epileptic encephalopathies (DEE), are severe epilepsies in which seizures and EEG epileptiform activity themselves worsen cognition and development; classic syndromes include West, Dravet, Ohtahara, and Lennox-Gastaut.

Epileptic encephalopathy with global cerebral demyelination

Epileptic encephalopathy with global cerebral demyelination, also called AGC1 deficiency or EIEE 39 (OMIM 612949), is a rare SLC25A12 mitochondrial aspartate-glutamate carrier disorder causing infantile seizures, hypotonia, arrested development, cerebral hypomyelination, low NAA, treatable with ketogenic diet.