Localized junctional epidermolysis bullosa
Synonyms: JEB-nH loc | Junctional epidermolysis bullosa, non-Herlitz localized type | Localized JEB
A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering and dystrophic or absent nails. Skin blistering is mainly confined to hands feet lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.
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 September 2023.
Newly diagnosed with
Localized junctional epidermolysis bullosa?
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.
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.