Case report describes 4 children with EB and airway ills

Involvement of the larynx in EB requires prompt surgical intervention

Lindsey Shapiro, PhD avatar

by Lindsey Shapiro, PhD |

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Airway involvement is a rare but burdensome and life-threatening manifestation of epidermolysis bullosa (EB) that requires prompt and proper management, according to a recent case report.

Researchers in Saudi Arabia described four children with EB who were brought to their clinic showing involvement of their larynx, or voice box, with problems in speaking, eating and breathing that required surgical intervention.

The report, “Supraglottic laryngeal manifestation of epidermolysis bullosa in a pediatric population: A literature review with four case reports,” was published in the journal Otolaryngology Case Reports.

A group of rare diseases, the hallmark of all EB types is fragile, easily blistering skin. But for some patients, blistering also can affect the moist tissues in other areas of the body, such as the eyes, gastrointestinal tract, and ears, nose, and throat (ENT).

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Involvement of the airways can be a severe and life-threatening complication for EB patients. The larynx is the part of the airways containing the vocal cords. It is a group of cartilages, muscles and soft tissue that opens into the windpipe.

In the report, researchers described four children with EB who had laryngeal involvement.

The first case concerned a 14-year-old boy with junctional EB who came to the ENT clinic with difficulty breathing and a hoarse voice.

A laryngoscopy — an exam of the larynx — at age 9 revealed narrowing of the upper part of the larynx, called supraglottis. He then underwent a direct laryngobronchoscopy (DLB), a surgical procedure to examine both the larynx and the airway structures below it, confirming supraglottic stenosis.

He underwent surgery to widen his larynx and was given injections of Kenacort, a steroid to reduce swelling and pain, directly into the airway tissue.

Over the next four years, the boy underwent 20 different procedures, airway dilations, and Kenacort injections. He responded well and the frequency of procedures was decreased over time.

A 1.5-year-old girl also reported to the clinic with junctional EB and laryngeal involvement. She had a history of neonatal intensive care admission, intubation to provide ventilation, and had a feeding tube due to trouble swallowing.

Supraglottic stenosis

A series of exams revealed she had supraglottic stenosis, affecting the lower part of the larynx. Overall, the girl underwent four different procedures to widen her airways and receive Kenacort injections in the supraglottic area.

Still, her breathing, hoarse voice, and high-pitched noise when inhaling (inspiratory stridor) worsened. As of her last procedure, clinicians recommended a tracheostomy, which creates a hole in the windpipe to provide a breathing alternative, but her parents had not yet consented to the procedure.

Finally, the researchers described 3-year-old twin girls diagnosed with simplex EB. Both girls were admitted to the emergency room due to a lung infection at 7 months old.

One of the girls continued to develop a worsening stridor and respiratory distress, and she was found to have supraglottic swelling.

After surgery, she was lost to follow-up for one year. When she returned, it was reported she had an emergency tracheostomy at another hospital due to respiratory distress at age 2.

She underwent two DLBs, which revealed stenosis and inflammation, as well as granulation tissue, which is common as the body attempts to heal a wound.

Airway dilation, removal of granulation tissue, and Kenacort injections were performed, and no complications or recurrence of stenosis or granulation tissue occurred.

Milder disease in twin sister

Her sister had an initially milder disease course, with signs of supraglottic narrowing. Additional DLBs revealed supraglottic granulation tissue, which was removed. In another operation, her airways were dilated, she was given Kenacort, and more granulation tissue was removed.

After surgery she experienced stridor and symptom recurrence, requiring a tracheostomy.

“The timing and nature of the intervention can have a significant impact on the disease progression,” the researchers wrote. “Further studies and a consensus regarding the surgical management of EB are required,” the team concluded.