Related Experiment Videos
Life-threatening vocal cord paralysis in a patient with group A xeroderma pigmentosum
Tatsuyuki Ohto1, Nobuaki Iwasaki, Hideki Okubo
1Department of Pediatrics, Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.
Abstract:
We report a 19-year-old male with group A xeroderma pigmentosum who presented life-threatening vocal cord paralysis. At 3 months of age, he became sensitive to sunlight, and at the age of 4 years he was diagnosed with group A xeroderma pigmentosum. The neurologic symptoms progressed slowly thereafter. From the age of 18 years, he reported the development of occasional episodic inspiratory stridor and dyspnea, but the cause remained unknown. At the age of 19, he had a common cold and became severely dyspneic and cyanotic. Immediate examination of the glottis upon arrival by an otorhinolaryngologist using a fibroscope indicated complete paralysis of both vocal cords, and tracheal intubation resulted in marked improvement of respiration. Tracheostomy was performed thereafter. Inspiratory stridor and dyspnea are the common symptoms in this disease, and some patients with group A xeroderma pigmentosum undergo a tracheostomy, but the pathogenesis remains unknown. To our knowledge, vocal cord paralysis has never been reported in patients with group A xeroderma pigmentosum. This case is presented to illustrate the importance of fibroscopy in the examination of vocal cords in patients with group A xeroderma pigmentosum before the development of life-threatening events.
Related Concept Videos
Changes in Skin Color: Clinical Perspectives
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Pneumothorax-I
Pneumothorax can be even further classified as spontaneous, traumatic, and tension pneumothorax.
Pleiotropy
Pigmentation
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
Assessment of Airway, Skin Color, and Use of Accessory Muscles
Introduction
The initial evaluation of a patient's respiratory system...
Pneumothorax-II
Clinical Manifestations: