elastin and Vocal-Cord-Paralysis

Williams syndrome (WS) is due to a deletion in the WS critical region at 7q11.23 which includes the elastin gene (ELN). One of the most characteristic features of this disorder is a harsh, brassy, or hoarse voice but the etiology of the vocal characteristics are unknown. We report two patients with WS who had bilateral vocal cord abnormalities, bringing to four the number of children with WS in whom such defects have been documented. We suggest that vocal cord abnormalities may be a far more common feature of WS than has been previously suspected, and that mild vocal cord dysfunction caused by abnormal vocal cord elastin may be the cause of the hoarse voice in this condition.

Topics: Adult; Elastin; Female; Gene Deletion; Humans; In Situ Hybridization, Fluorescence; Infant; Infant, Newborn; Phenotype; Vocal Cord Paralysis; Vocal Cords; Williams Syndrome

We report on a short-term clinical study of injectable autologous collagen (Vocalogen) used to correct dysphonias arising from vocal fold immobility. The collagen is extracted from skin taken from the lower abdominal quadrant area or from just above the bikini line. About 30 cm2 of skin are required to provide 2 mL of injectable collagen. The histologic examination of the preparation before injection disclosed the presence of elastin fibers and some clusters of epithelial cells, beside the collagen fibers. The collagen is naturally reticulated, and the molecule is preserved in its entirety. The technique is exactly the same as that reported for bovine collagen: injection into Reinke's space, under general anesthesia, monitored by direct microlaryngoscopy. The amount injected is also similar: 1.5 mL for correction of glottic insufficiency in which the immobile vocal fold is in the intermediate position. Eight patients were injected, and the average follow-up was 4.5 months. Voice assessments made before and after the treatment included stroboscopy, subjective and perceptual judgments, and aerodynamic and acoustic measurements. The functional results were similar to those obtained with bovine collagen. No complications arose. The probability of any hypersensitivity reaction, always a possibility to be feared with bovine collagen, is negligible with the autologous collagen. Long-term results are as yet unknown, but from the fact that the collagen molecular structure is intact and there is little risk of foreign body response, it would be expected that autologous preparations would be more stable than bovine collagen; this appears to be the case in cosmetic applications. Autologous collagen could be employed for the same indications as bovine collagen, provided that a delay of 45 days (the time required to prepare the injectable collagen) is acceptable. The amount of collagen required is also a limiting factor, since the patient's own skin is the starting donor material.

Topics: Aged; Collagen; Elastin; Female; Humans; Injections; Male; Middle Aged; Speech Therapy; Treatment Outcome; Vocal Cord Paralysis; Voice Disorders