The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal blistering of the skin||90%|
|Abnormality of temperature regulation||90%|
|Nausea and vomiting||90%|
|Abnormality of neutrophils||50%|
|Feeding difficulties in infancy||50%|
|Abnormality of the eyelid||7.5%|
|Abnormality of the myocardium||7.5%|
|Abnormality of the pleura||7.5%|
|Abnormality of the preputium||7.5%|
|Abnormality of the urethra||7.5%|
|Acute hepatic failure||7.5%|
|Coronary artery disease||7.5%|
|Elevated hepatic transaminases||7.5%|
|Inflammatory abnormality of the eye||7.5%|
|Recurrent respiratory infections||7.5%|
|Restrictive ventilatory defect||7.5%|
|Sudden cardiac death||7.5%|
Treatment of severe symptoms may include:
Treatment for the eye may include artificial tears, antibiotics, or corticosteroids.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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I have a friend whose grandson recently died from complications associated with Stevens-Johnson syndrome. I have not been able to find information about this condition. What information can you provide? See answer