Images in Anesthesiology: Child with Junctional Epidermolysis Bullosa, Hoarseness, and Nasal Obstruction Demonstrating Severe Laryngeal Stenosis

A 5-YR-OLD, 19.7-kg boy with junctional epidermolysis bullosa (JEB) presented for evaluation of nasal obstruction, hoarseness, stridor worsened by crying, and snoring. Microlaryngoscopy and bronchoscopy revealed a significantly deformed and swollen epiglottis with concealed laryngeal anatomy (fig. A) and severe laryngeal stenosis secondary to granulation tissue obscuring the vocal cords (fig. B) with normal subglottis and trachea (anatomic structures not shown). With these symptoms and degree of laryngeal stenosis, we anticipated slow inhalational induction, increased end-tidal carbon dioxide, airway obstruction, and challenging control of anesthetic depth. Maintenance with dexmedetomidine or propofol and restricting opiates may be preferred in order to preserve spontaneous ventilation and airway tone while minimizing carbon dioxide retention.

JEB is an autosomal recessive inherited basement membrane defect of the epidermis prone to granulation formation, with Herlitz subtype being most severe. Cutaneous blistering of digits, genitourinary tract, corneas, oral and nasal cavities, and granulation formation are common.¹  Airway abnormalities have a dramatically higher incidence in JEB compared to other forms of epidermolysis bullosa, with a cumulative risk of laryngeal stenosis, stricture, or obstruction plateauing at 40% for Herlitz-JEB by 6 yr and 13% for non–Herlitz-JEB by 9 yr.²  Symptoms manifest as a weak, hoarse voice progressing to stridor and respiratory distress usually due to granulation tissue requiring prompt upper airway endoscopic visualization. Gastroesophageal reflux disease treatment may improve respiratory symptoms, but without tracheostomy, many young children with JEB succumb to respiratory complications. However, endoscopic laryngeal surgery with problem-focused cold surgical dissection can be a safe alternative for patients with JEB and laryngotracheal disease.³  Recognition of the symptoms and severity of airway pathology due to granulation tissue associated with JEB compared to other epidermolysis bullosa subtypes is crucial to safe and effective perioperative management.