Junctional epidermolysis bullosa with pyloric atresia

MONDO:0009183

Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.

Also known as: Carmi syndrome, JEB-PA, epidermolysis bullosa junctionalis with pyloric atresia, epidermolysis bullosa, junctional, with pyloric stenosis, junctional epidermolysis bullosa with pyloric atresia, EB-Pa-ACC, JEB-Pa, aplasia cutis congenita with gastrointestinal atresia

1 clinical trial for this condition and its sub-types, 0 tagged with Junctional epidermolysis bullosa with pyloric atresia itself.

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Including sub-types (1) Tagged with Junctional epidermolysis bullosa with pyloric atresia (0)

Completed 1

CBD oil may soothe itch in kids with rare skin disease

Symptom relief Completed

This study tested whether cannabidiol (CBD) can reduce severe itching in 10 children with a rare genetic skin condition called epidermolysis bullosa. The children took CBD syrup three times a day for a month. Researchers measured itch, pain, sleep, and quality of life before and …

Phase 2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Symptom relief

Last updated Jun 27, 2026 09:10 UTC

Junctional epidermolysis bullosa with pyloric atresia

Where it sits in the disease tree

CBD oil may soothe itch in kids with rare skin disease