Ehlers-Danlos syndrome in the practice of an otorhinolaryngologist: Clinical observation and literature review

Abstract

The presented own clinical observation showed that functional dysphonia can be one of the clinical manifestations of EhlersDanlo syndrome: it is the deep layer of the own plate of the vocal fold, containing a large amount of collagen, that is most susceptible to changes in this pathology. The patient of the vocal voice for many years: a picture of hypotonic dysphonia was revealed during video pharyngostroboscopy – gaping of the laryngeal ventricles, non-closure of the vocal folds throughout by 1.5–2 mm. Acoustic analysis of the voice showed a decrease and instability in the amplitude of the pitch frequency, a narrowing of the dynamic range, a decrease in the intensity of the voice in the area of individual tones of the transient register, an increase in the level of noise components in the spectrum. The patient underwent a course of neuromuscular electrophonopedic stimulation No. 12 in combination with taking B vitamins for three weeks; after that, an increase in voice endurance was subjectively noted, however, according to the results of phonetography, spectrography and videolaryngostroboscopy, no visible positive dynamics was noted. The rheumatologist revealed hyperextension and increased traumatism of the skin, increased folding of the palms and flat feet. DNA sequencing revealed mutations in the genes and confirmed the diagnosis of Ehlers-Danlo syndrome.