Epidermolysis bullosa herpetiformis, Dowling-Meara: A rare inherited skin blistering disorder where blisters occur anywhere on the skin but particularly on the palms, soles, trunk, neck and around mouth. The blisters heal without scarring.
Epidermolysis bullosa intraepidermic: A rare inherited skin disorder characterized by separation of the layers within the skin which results in fragile, blistered skin. The blisters usually heal without scarring and the skin that is most often placed under trauma (feet and hands) is the most affected.
Epidermolysis bullosa inversa dystrophica: A rare genetic syndrome characterized by fragile skin which blisters easily. The corneas, vulval and anal areas are involved as well as the trunk, neck, thighs and legs.
EBL is one of several serious skin disorders with severe blistering of the skin. The infantile form identified in the Holmes County Amish may have its onset before birth with blisters forming in utero and therefore lesions are often present at birth. Most are on the limbs and trunk with relative sparing of the hands and feet. They rarely heal and instead the raw tissue beneath constantly seeps serum protein and electrolytes much like thermal burns do and there may significant loss of bodily fluids. The slightest touch may lead to sloughing of the superficial skin. Infection is a constant threat and these complications often lead to death within weeks to months.
Epidermolysis bullosa simplex with mottled pigmentation: A variant of a skin blistering disease which also involved a skin pigmentation anomaly.
Epidermolysis bullosa simplex, Cockayne-Touraine type: A form of skin disease where fragile skin blisters if it suffers some sort of physical trauma. The blisters do not cause scarring and are exacerbated by warm weather.
Epidermolysis bullosa simplex, Koebner type: A rare genetic skin blistering disorder where fragile skin blisters upon minor trauma. The blistering is widespread and can cause severe scarring which can affect growth.
Epidermolysis bullosa simplex, Ogna type: An inherited skin blistering condition characterized by blisters on palms and soles.
Epidermolysis bullosa with pyloric atresia (medical condition): A rare inherited blistering skin disorder which also involves a defect where the digestive system is closed off in the pyloric area. Death generally occurs even if the defect is corrected
Epidermolysis bullosa, dermolytic: A rare genetic syndrome characterized by fragile skin which blisters easily due to defective skin collagen. The mucosal lining of the mouth and even intestines may be effected in severe cases.
Epidermolysis bullosa, generalized atrophic benign: A rare inherited skin disorder characterized by fragile skin which blisters easily and often results in scars after healing. The condition is generally quite mild compared to other skin disorders involving fragile blistering skin
Epidermolysis bullosa, junctional: A rare inherited skin disease which is characterized by fragile skin which readily forms skin blisters and can result in fatal complications.
Epidermolysis bullosa, junctional, with pyloric atrophy: A rare inherited skin disease which is characterized by fragile skin which readily forms skin blisters as well as obstruction of the passage from the stomach to the intestine (pylorus). Death usually occurs within weeks of birth
Epidermolysis bullosa, lethal acantholytic: A very rare inherited disorder characterized by extremely fragile skin and mucous membranes which blisters and peels. The majority of the skin blisters and peels within a week of birth. Severe fluid loss and death follows soon after.
Epidermolysis bullosa, pretibial: A rare genetic syndrome characterized by fragile skin which blisters easily due to defective skin collagen. The skin on the front of the shins is usually the main area affected in this form.
Epilepsy is a central nervous system disorder (neurological disorder) in which the nerve cell activity in your brain is disturbed, causing a seizure during which you experience abnormal behavior, symptoms and sensations, including loss of consciousness.
Seizure symptoms vary. Some people with epilepsy simply stare blankly for a few seconds during a seizure, while others repeatedly twitch their arms or legs.
About 1 in 100 people in the United States may have an unprovoked seizure once in life. However, a solitary seizure doesn't mean you have epilepsy. At least two unprovoked seizures are generally required for an epilepsy diagnosis.
Even mild seizures may require treatment because they can be dangerous during activities such as driving or swimming. Treatment, which generally includes medications or sometimes surgery, may eliminate or reduce the frequency and intensity of seizures. Some children with epilepsy even outgrow the condition with age.
Epilepsy benign neonatal dominant form: A recessively inherited form if seizures that starts during early infancy.
Epilepsy benign neonatal recessive form: A recessively inherited form if seizures that starts during early infancy.
Epilepsy juvenile absence: A rare form of epilepsy that occurs around the time of puberty. Generalized tonic-clonic seizures occur when waking up and myoclonic seizures can also occur.
Epilepsy - mental deterioration, Finnish type: A rare disorder that occurs predominantly in people of Finnish origin and is characterized by the association of epilepsy with mental retardation.
Epilepsy - microcephaly - skeletal dysplasia: A rare syndrome characterized by epilepsy, a small head and skeletal abnormalities.
Celiac disease - epilepsy - occipital calcifications: A rare syndrome characterized by celiac disease and epilepsy with brain calcifications
Epilepsy, progressive myoclonic 3: A genetic disorder involving the early onset of progressive myoclonic epilepsy. The infant develops normally for the first year or so of life and the seizures start usually before the age of two. Once the seizures start, neurological degeneration begins.
Epilepsy - telangiectasia: A rare syndrome characterized by the association of epilepsy with telangiectasias on the conjunctiva of the eyelids.
A form of childhood epilepsy which is associated with a sudden loss of muscle tone which often results in the sufferer falling over and possibly injuring themselves.
In this epilepsy syndrome, seizures usually begin between the ages of 5 and 7, and originate in the occipital lobe. Seizure symptoms often include: * visual hallucinations * loss of vision, or forced deviation of the eyes * vomiting The hallucinations can take any form, but tend to be of brightly colored shapes of all sizes. Children may then complain of intense headache and may have extended periods of nausea and/or vomiting. BOE can sometimes be mistaken for migraines due to the visual changes and headaches associated with this type of epilepsy. In addition to hallucinations and visual disturbances children may also experience jerking movements on one side of their body.
Epilepsy, myoclonic progressive familial: A progressive central nervous system disorder characterized by involuntary muscle jerking that can involve just the limbs or the whole body.
Epilepsy, nocturnal, frontal lobe type: An inherited form of epilepsy which originates from the frontal lobe and occurs predominantly at night. The seizures tend to occur in groups with as many as 8 occurring during a night. Often the condition is dismissed as nightmares or a psychiatric disorder. There are a number of genetic defects linked to the disorder resulting in a number of subtypes of the condition.
Epilepsy, partial, familial: A form of epilepsy that tends to run in families and is linked to damage or abnormalities in a specific part of the brain. Often sensory disturbances accompany or precede the seizures.