Epidermolysis bullosa simplex due to exophilin 5 deficiency
Synonyms: EBS due to exophilin 5 deficiency
A rare inherited epidermolysis bullosa simplex characterized by mild generalized trauma-induced scale crusts and intermittent blistering sometimes combined with erosions recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Epidermolysis bullosa simplex due to exophilin 5 deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
DEBRA International
Empower people with EB and their support networks, advocates, healthcare professionals, researchers, and industry with the knowledge and tools they need to better the lives of those with epidermolysis bullosa (EB) worldwide.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.