How is EBS Diagnosed?
Initial diagnosis for EBS typically occurs at birth and is based on the skin’s appearance. Mild EBS can be diagnosed into adulthood. Less severe EBS is thought to be underdiagnosed or potentially misdiagnosed as other skin blistering disorders.1 Severe EBS may initially be misdiagnosed as Dystrophic EB (DEB). Genetic confirmation is encouraged to help healthcare professionals develop optimal therapies and is often required for enrollment in clinical trials.
The following test can be performed to confirm diagnosis: