Extremely rare. Deletion of the DSG3 (desmoglein) gene (18q11). Desmoglein deficiency (a protein of the cadherin family) leads to fragile oropharyngeal mucosa (detachments, bleeding, epiglottis pemphigus) and respiratory distress.

The presence of autoantibodies against desmoglein-3 leads to pemphigus vulgaris.

Anesthetic implications: 

fragile oropharyngeal mucosa, difficult intubation; ideally, no oropharyngeal cannula or supralaryngeal device should be used..

References : 

-        Bajwa J, Deserres L, Lando T, Salik I.
Case report: Desmoglein-3 gene mutation leading to airway compromise in fraternal twin infants.
A&A Practice 2022;16: e01584

Updated: July 2023