TaoMedAI/RareMedData huggingface dataset:
Epilepsy with eyelid myoclonia (ORPHA:139431)
A rare, idiopathic, generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures.
Epidemiology
Prevalence is unknown but Jeavons syndrome appears to represent around 7-8% of all idiophatic generalized epilepsies (IGEs). The syndrome is slightly more frequent in females than in males.
Clinical description
Onset occurs in childhood, with a peak at 6-8 years of age. Eyelid myoclonia is the principle clinical feature and may or may not be associated with brief (less than 6s) absences. Eye closure in the presence of uninterrupted light is the major triggering factor. Eyelid myoclonic status epilepticus is reported in up to one fifth of the patients and self-induction, although rare, has been described. Generalized tonic-clonic seizures occur in most patients, but the frequency of the seizures is low. Mental development is usually normal but mild to moderate intellectual deficit has been reported in some cases.
Etiology
The etiology is unknown but Jeavons syndrome appears to be genetically determined: the majority of reported patients have a family history of IGE and a few cases of affected twins have been reported.
Diagnostic methods
Eyelid myoclonia is a highly distinctive seizure type and is strongly suggestive of Jeavons syndrome. Video-electroencephalography (video-EEG) is the only procedure required for diagnosis and reveals eye closure-related generalized paroxysmal activity. Thus, in patients with eyelid myoclonia with or without absences, associated with photosensitivity and EEG discharges triggered by eye closure, the diagnosis of Jeavons syndrome is straightforward.
Differential diagnosis
However, other forms of idiopathic, cryptogenic, and symptomatic epilepsy featuring eyelid myoclonia or eye closure sensitivity (juvenile myoclonic epilepsy, juvenile absence epilepsy, and idiopathic photosensitive occipital lobe epilepsy; see these terms) may also be considered in the differential diagnosis. Misdiagnosis of eyelid myoclonia as a facial tic has also been reported.
Management and treatment
The seizures in Jeavons syndrome usually respond well to antiepileptic treatment, with antimyoclonic drugs (valproate, benzodiazepines, levetiracetam, and zonisamide) showing the highest level of efficacy and generally allowing good seizure control. However, polytherapy is often needed and some cases may be drug-resistant.
Prognosis
The overall prognosis is good, although Jeavons syndrome is usually a lifelong condition.

                            Last update: 
                            January 2009


                            - Expert reviewer(s): 
                            Dr Pasquale STRIANO
Epilepsy-microcephaly-skeletal dysplasia syndrome (ORPHA:1948)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996.
Epilepsy-telangiectasia syndrome (ORPHA:1951)
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978.
Epileptic encephalopathy with global cerebral demyelination (ORPHA:353217)
Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome (ORPHA:1825)
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.
Epiphyseal stippling-osteoclastic hyperplasia syndrome (ORPHA:1952)
A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period.
Epiphysiolysis of the hip (ORPHA:399329)
Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee).
Episodic ataxia type 1 (ORPHA:37612)
A frequent form of Hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.
Episodic ataxia type 3 (ORPHA:79135)
A rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.
Episodic ataxia type 4 (ORPHA:79136)
A rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia.
Episodic ataxia type 5 (ORPHA:211067)
Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours.
Episodic ataxia type 6 (ORPHA:209967)
Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.
Episodic ataxia type 7 (ORPHA:209970)
Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.
Episodic ataxia with slurred speech (ORPHA:401953)
Episodic ataxia with slurred speech is a rare hereditary ataxia characterized by recurrent episodes of ataxia with variable frequency and duration, associated with slurred speech, generalized muscle weakness and balance disturbance. Other symptoms may occur between episodes, including intention tremor, gait ataxia, mild dysarthria, myokymia, migraine and nystagmus.
Epithelial basement membrane dystrophy (ORPHA:98956)
A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner.
Epithelial recurrent erosion dystrophy (ORPHA:293381)
Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.
Epidemiology
Prevalence of this form of corneal dystrophy is unknown, but numerous cases have been reported to date.
Clinical description
The erosions begin spontaneously or are precipitated by minor trauma, dust or smoke. The condition may become apparent by 6 months of age, but as a rule it only starts at 4 to 6 years of age. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Some experience a burning sensation and report sensitive eyes for years. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks. The intensity and frequency of the recurrent epithelial erosions tend to diminish over time, and usually cease by the end of the fourth decade. Vision is sometimes impaired.
Etiology
The etiology has not been completely elucidated. The gene related to ERED remains to be mapped to a specific chromosomal locus.
Diagnostic methods
On slit-lamp examination, the erosions may be accompanied by a subepithelial haze or blebs, and subepithelial opacities, apparently due to fibrosis, or keloid-like nodules may develop. When present, subepithelial opacities continue to enlarge. Specific morphologic abnormalities have not been identified in ERED.
Differential diagnosis
Suspected cases of ERED should be differentiated from other conditions that are accompanied by recurrent epithelial erosions, particularly when erosions are the initial presenting manifestation, such as epithelial basement membrane dystrophy and other superficial or stromal corneal dystrophies (see these terms).
Genetic counseling
An autosomal dominant pattern of inheritance has been reported.
Management and treatment
ERED can be treated medically with the aim of healing the epithelial defect and protecting the loosely adherent epithelium. A topical antibiotic, cycloplegic and pressure patch are valuable. A lubricating ointment is useful at night. Hypertonic saline and bandage contact lens therapy may also be beneficial.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Epithelioid hemangioendothelioma (ORPHA:157791)
A rare vascular tumor characterized by a solitary lesion in the superficial or deep soft tissue of the extremities, most often originating from a small vein as a fusiform intravascular mass also infiltrating surrounding tissues. It is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma. Patients present with an often painful nodule which may be associated with edema or thrombophlebitis. In classic epithelioid hemangioendothelioma lacking atypical histological features metastatic rate and mortality are low.
Epithelioid sarcoma (ORPHA:293202)
A rare, soft tissue tumor characterized by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body.
Epithelioid trophoblastic tumor (ORPHA:254698)
A rare gestational trophoblastic neoplasmcharacterized histologically by invasion of the myometrium and/or cervix uteri by regular epithelioid cells of chorion laeve type intermediate trophoblasts which clusters in a hyaline stroma. The disease generally occurs several years after pregnancy and indicative signs are irregular metrorrhagia and moderate increases in chorionic gonadotropin levels.
Epstein-Barr virus-associated gastric carcinoma (ORPHA:313920)
A rare form of gastric carcinoma characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.
Epstein-Barr virus-positive diffuse large B-cell lymphoma (ORPHA:289661)
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate.
Ermine phenotype (ORPHA:999)
A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.
Erosive pustular dermatosis of the scalp (ORPHA:222)
Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.
Erythema elevatum diutinum (ORPHA:90000)
Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.
Epidemiology
It is very rare, although the exact prevalence is unknown.
Clinical description
The disease manifests as chronic, red to purple papules, located mainly on the dorsal aspect of the main joints (knees, elbows, hands and feet). Acute lesions may appear bullous, necrotic or hemorrhagic. Older lesions are yellowish or brown.
Etiology
EED is not an inherited disease and the exact aetiology remains unknown. EED is a reactive process, which may occur in isolation or in the context of an inflammatory or systemic disease, or in association with blood abnormalities (gammopathies) or infections (including HIV infection).
Diagnostic methods
Diagnosis is made on the basis of the clinical presentation and after histological analysis of skin biopsies by a dermatopathologist.
Differential diagnosis
EED should be distinguished from other types of papular or nodular dermatoses, as well as fibrous tumors and xanthomas.
Management and treatment
Management includes a complete clinical examination by a dermatologist, together with screening for infections, digestive disorders, and gammopathies (serum electrophoresis). Dapsone is the first line of treatment for EED. Treatment must be monitored clinically and by blood examination. In cases were dapsone is inefficient or poorly tolerated, other drugs may provide an effective treatment.
Prognosis
Although EED is a chronic condition, it is usually sensitive to treatment and the prognosis is good.

                            Last update: 
                            September 2007


                            - Expert reviewer(s): 
                            Dr Daniel WALLACH
Erythema multiforme major (ORPHA:502499)
A rare skin disease characterized most typically by targetoid papules with 3-rings of concentric color variation (dark center, surrounded by lighter pink ring and an outer red ring) symmetrically distributed on the extensor surfaces of the extremities, or more diffuse, accompanied by 2 or more mucosal involvements (erosions of the oral, genital, anal mucosa, conjunctivitis, pseudomembranes). The condition is commonly proceeded by prodromal symptoms of malaise, fever, and myalgias, and is usually self-limiting, resolving within a few weeks; although, there is a risk of recurrence. The disease is mostly triggered by infectious agents (herpes virus, mycoplasma pneumoniae) but a subset of patients have auto-antibodies targeting plakins. Rare cases of severe mucosal sequelae have been described.
Erythema palmare hereditarium (ORPHA:231031)
Erythema palmare hereditarium is a rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.
Erythroderma desquamativum (ORPHA:314)
A rare immune deficiency with skin involvement characterized by early infantile onset of a clinical tetrad comprising generalized severe seborrheic-like erythroderma, recurrent secondary bacterial or fungal infections (most commonly Staphylococcus aureus, Candida, and gram-negative bacteria), persistent, profuse malabsorptive diarrhea, and failure to thrive or marked wasting. Associated systemic symptoms include fever, anemia, and weight loss. Further critical complications are impaired thermoregulation and severe fluid loss due to extensive exfoliation.
Erythrokeratoderma ''en cocardes'' (ORPHA:315)
A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.
Erythrokeratodermia-cardiomyopathy syndrome (ORPHA:476096)
Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.
Erythropoietic uroporphyria associated with myeloid malignancy (ORPHA:280379)
A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased.
Esophageal duplication cyst (ORPHA:100047)
A rare, congenital, non-syndromic esophageal malformation characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, and are continuous or contiguous to the esophagus. The cyst is typically distally located and may or may not communicate with the esophageal lumen. Most become symptomatic presenting with a wide range of symptoms including dysphagia, non-productive cough, chest pain or failure to thrive. Others like palpitations due cardiac arrhythmia, thoracic back pain, and fever due to mediastinitis, have also been reported.
Essential fructosuria (ORPHA:2056)
Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism (see this term) caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.
Essential iris atrophy (ORPHA:98981)
A clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.
Esthesioneuroblastoma (ORPHA:1957)
Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases.
Estrogen resistance syndrome (ORPHA:785)
Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.
Ethylene glycol poisoning (ORPHA:31826)
A rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure.
Euryblepharon (ORPHA:99172)
Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus; see this term) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome, see this term). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.
Euthyroid dysprealbuminemic hyperthyroxinemia (ORPHA:597939)
A rare genetic endocrine disease characterized by increased affinity of a mutated transthyretin for T4. Total and free T4 may be normal or elevated, but affected individuals are clinically euthyroid.
Euthyroid Graves orbitopathy (ORPHA:466682)
A rare ophthalmic disorder characterized by clinical signs of Graves orbitopathy (i. e. unilateral or bilateral lid retraction, exophthalmos, soft tissue involvement, restrictive myopathy, and/or optic neuropathy) with normal thyroid function and without any signs of hyperthyroidism. Laboratory examination typically reveals low serum levels of thyroid-stimulating hormone receptor autoantibodies.
EVEN-plus syndrome (ORPHA:496751)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed.