Epidermolysis bullosa simplex with pyloric atresia

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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 February 2024

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