8,704 articles
Epidermolysis bullosa
Epidermolysis bullosa is a group of rare inherited skin disorders in which minor friction causes blisters, because structural proteins anchoring the skin layers are missing or defective.
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.
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.
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.
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.
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 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.
Epiphyseal arrest
Epiphyseal arrest (physeal arrest, growth plate arrest): premature stoppage of growth plate function before maturity, usually from a physeal bar after fracture, causing limb length discrepancy or angular deformity; treated by bar resection, epiphysiodesis, or guided growth.
Epiphyseal stippling-osteoclastic hyperplasia syndrome
Epiphyseal stippling-osteoclastic hyperplasia syndrome (Pacman dysplasia, ORPHA:1952, OMIM 167220) is an extremely rare, presumably perinatally lethal autosomal recessive bone dysplasia with epiphyseal stippling, osteopenia, and osteoclastic hyperplasia; some authors consider it prenatal mucolipidosis II.
Epiploic appendagitis
Epiploic appendagitis, inflammation of a colonic epiploic appendage from torsion or venous thrombosis, mimics diverticulitis and appendicitis; diagnosed by CT ring and dot signs, treated conservatively with NSAIDs.
Episodic ataxia type 1
Episodic ataxia type 1 (EA1), a rare autosomal dominant potassium channelopathy from KCNA1 (Kv1.1) mutations on 12p13, causes brief ataxia attacks with interictal myokymia, childhood onset, and carbamazepine-responsive episodes.
Episodic ataxia type 4
Episodic ataxia type 4 (EA4, PATX, periodic vestibulocerebellar ataxia; OMIM 606552) is a very rare autosomal dominant hereditary episodic ataxia with adult onset, attacks of vertigo, diplopia, and ataxia, unknown gene, no acetazolamide response, and no myokymia.
Episodic ataxia type 5
Episodic ataxia type 5 (EA5, OMIM 613855) is an extremely rare autosomal dominant channelopathy caused by CACNB4 mutations at 2q22-23, with adult-onset attacks of vertigo and ataxia lasting hours, allelic with juvenile myoclonic epilepsy 6.
Episodic unilateral mydriasis
Episodic anisocoria (ICD-11 8D8A.2), also benign episodic unilateral mydriasis, is transient recurring unequal pupil size from abnormal autonomic tone, typically in young women with migraine, benign and a diagnosis of exclusion.
Episodic vestibular syndrome
Episodic vestibular syndrome (EVS), ICD-11 AB31, is transient vertigo, dizziness, or unsteadiness lasting seconds to days with remission between episodes; main causes are vestibular migraine, Meniere's disease, BPPV, vestibular paroxysmia, and TIA.
Epithelial basement membrane dystrophy
Epithelial basement membrane dystrophy (EBMD), also called map-dot-fingerprint or Cogan microcystic dystrophy, is a common bilateral anterior corneal dystrophy causing map, dot, and fingerprint lines, reduced vision, and recurrent corneal erosions in about 10% of patients.
Epithelial recurrent erosion dystrophy
Epithelial recurrent erosion dystrophy (ERED, OMIM 122400), also called Dystrophia Smolandiensis or recurrent hereditary corneal erosions, is a rare autosomal dominant COL17A1 corneal dystrophy causing painful corneal erosions from childhood that lessen by the fourth decade.