Life-Threatening Stridor in Xeroderma Pigmentosum Type A

Abstract

Vocal fold dystonia and total vocal fold paralysis in Xeroderma Pigmentosum Type-A (XPA) are rare clinical conditions that have been recently described in a few case reports from the Japanese literature. We report here an 11-year-old boy with XPA and seizures and a history of frequent emergency room (ER) visits to different local hospitals for recurrent inspiratory stridor that was treated as "croup" since the age of 10.