Ann Clin Case Rep | Volume 5, Issue 1 | Case Report | Open Access

A Rare Cause of Subglottic Stenosis; CARMI Syndrome

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, UAE

*Correspondance to: Nader Francis 

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Abstract

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.

Keywords:

Carmi; Congenital; Epidermolysis bullosa; Skin fragility; Subglottic stenosis

Citation:

Francis N, Yavuz S. A Rare Cause of Subglottic Stenosis; CARMI Syndrome. Ann Clin Case Rep. 2020; 5: 1889..

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