RESUMO
Introduction: Ectopic salivary gland is rarely found in the vocal cords; only two cases have been reported in the English literature. To the best of our knowledge, this is the third reported case of this anomaly. Case Presentation. A 78-year-old man with hoarseness two years ago visited our department. There were no other symptoms such as cough or sore throat. He had no history of smoking. Laryngeal endoscopic examination revealed a smooth mass in the anterior right vocal cord. We performed surgery under general anesthesia to remove the polyps and improve hoarseness. The histopathological specimen was reported to be salivary gland tissue. We diagnosed ectopic salivary glands of the vocal cord. Conclusion: It is necessary to consider the possibility of ectopic salivary glands as mass lesions of the vocal cords. Surgical resection is required and long-term follow-up is necessary after surgery.
RESUMO
Cadherin 23 (CDH23) is one of the most common genes responsible for hereditary hearing loss; a mutation of CDH23 can cause a wide range of symptoms depending on the variant. In this study, an iPSC line was generated from a patient with late-onset, progressive high frequency hearing loss caused by c.[719C > T];[6085C > T]:p.[P240L];[R2029W] compound heterozygous variants of CDH23. The cells were confirmed to have a normal karyotype, express markers of pluripotency, and have tri-embryonic differentiation potential. This disease-specific iPSC line will further the construction of disease models and the elucidation of the pathophysiology of CDH23 mutations.