Case Report: Desmoglein-3 Gene Mutation Leading to Airway Compromise in Fraternal Twin Infants

Authors

Jasmine Bajwa, From the Departments of Pediatric Anesthesiology.
Lianne Deserres, Pediatric Otolaryngology, Westchester Medical Center, New York Medical College, Valhalla, New York.
Tali Lando, Pediatric Otolaryngology, Westchester Medical Center, New York Medical College, Valhalla, New York.
Irim Salik, From the Departments of Pediatric Anesthesiology.

Author Type(s)

Faculty

Journal Title

A&A Practice

First Page

e01584

Document Type

Article

Publication Date

4-12-2022

Department

Otolaryngology

Second Department

Anesthesiology

Abstract

The desmoglein 3 18q11 gene mutation has not been well described in humans, except for a few case reports. The desmoglein 3 gene controls a transmembrane component of the desmosome complex that mediates epidermal cell adhesion and integrity of the oropharyngeal mucosa. We present two fraternal twin infants who exhibited features of airway compromise and respiratory distress shortly after birth. These infants presented with chronic, cyclical sloughing of the upper airway, larynx, and pharynx associated with difficult airway management and eventual respiratory failure. It is imperative that practitioners be aware of the severity of this rare mutation.

Recommended Citation

Bajwa, J., Deserres, L., Lando, T., & Salik, I. (2022). Case Report: Desmoglein-3 Gene Mutation Leading to Airway Compromise in Fraternal Twin Infants. A&A Practice, 16 (4), e01584. https://doi.org/10.1213/XAA.0000000000001584