AI Article Synopsis
- Junctional Epidermolysis Bullosa (JEB) is a rare genetic disorder that primarily affects the skin and can involve the mucosal areas, although laryngeal involvement is uncommon.
- A 7-month-old boy with JEB experienced respiratory distress and stridor, which led to the discovery of multiple levels of laryngeal stenosis.
- Further longitudinal studies are needed to assess the long-term outcomes of JEB in patients with laryngeal issues to prevent unnecessary surgeries.
Article Abstract
Introduction: Introduction: Junctional Epidermolysis Bullosa (JEB) is a rare subtype of the Epidermolysis Bullosa which itself is a rare genetic disorder. While mucosal involvement of pharynx and oesophagus has been reported, laryngeal involvement is rare.
Case Report: A 7-month-old male child who was known to have Junctional Epidermolysis Bullosa presented to the emergency department with respiratory distress associated with a stridor which was eventfully found to have multiple level laryngeal stenosis.
Conclusions: Longitudinal cohort studies are required to determine the long-term outcome and the anticipated behavior of epidermolysis bullosa in patients with laryngeal manifestation to avoid unnecessary surgical interventions.
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Source |
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11421763 | PMC |
| http://dx.doi.org/10.22038/ijorl.2024.78360.3639 | DOI Listing |
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