Epidermolysis bullosa simplex with pyloric atresia
Synonyms: EBS with pyloric atresia | EBS-PA
A rare inherited epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally pyloric atresia can manifest with polyhydramnios. If patients survive they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive anemia sepsis intraoral blistering enamel hypoplasia urethral stenosis and urologic complications.
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
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Epidermolysis bullosa simplex with pyloric atresia?
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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
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