Ehlers-Danlos Syndrome Presenting as Airway Obstruction and Hoarseness

Jessica Seebald ； Joseph Muscarella

《Journal of Case Reports in Medicine》 4期 (2015/12) Pp. i1-2

https://doi.org/10.4303/jcrm/235956

並列摘要

Ehlers-Danlos syndrome is an autosomal dominant genetic defect in connective tissue synthesis and structure. The genetic disorder is classified into six major types based on clinical signs and symptoms as well as genetic testing. We describe the case of a 42-year-old female who presents with dyspnea and hoarseness. After an anterior glottic web was discovered, the attempts to remove the web created excess scarring. She was referred to a geneticist and diagnosed with classic Ehlers-Danlos syndrome and showed signs of vascular type. Genetic disorders should be considered in differentials when poor healing or abnormal scarring occurs post surgery.

並列關鍵字

Ehlers-Danlos ； dyspnea ； hoarseness ； excessive airway scarring ； glottic web