Nader Francis1* and Sinan Yavuz2
1Department of Pediatric Pulmonology, Al Qasimi Women, and Children Hospital, UAE 2Department of Pediatric, Al Qasimi Women and Children Hospital, UAEFulltext PDF
Epidermolysis Bullosa (EB) is a rare heritable disease of the skin, manifests at birth, early childhood, or adults with different subtypes (simplex, recessive, dystrophic, and junctional) that cannot be separated clinically. Junctional EB (JEB) divided into three subgroups: Herlitz, non-Herlitz, and JEB with Pyloric Atresia (JEB-PA). JEB-PA, also known as CARMI syndrome, is an autosomal recessive disease, divided into two variants, non-lethal and lethal, because of mutations in ITGB4 and ITGA6. Upper airway obstruction that can be fatal is one of the important complications. There is no cure treatment, and additionally, it has a poor prognosis.
Carmi; Congenital; Epidermolysis bullosa; Skin fragility; Subglottic stenosis
Francis N, Yavuz S. A Rare Cause of Subglottic Stenosis; CARMI Syndrome. Ann Clin Case Rep. 2020; 5: 1889..