Isolated Myxoma of the External Auditory Canal: A Case Report and Literature Review

Myxoma is a benign myxoid tumor of connective tissue that develops primarily in the heart. At the level of the external auditory canal, it is extremely rare. It can be isolated or associated with Carney syndrome. Only 5 cases of isolated myxoma of the external auditory canal have been reported in the literature. We present the case of a 53-year-old patient who consulted for a hearing loss that has been evolving for 3 years. Otoscopy revealed a mass filling the external auditory canal. The scan showed a total filling of the external auditory canal with a homogenous sessile neoformation of 20 × 10 mm. This mass was completely resected and the histological examination showed spindle-shaped and star-shaped cells against an abundant myxoid background, which was consistent with myxoma. All the tests, done to eliminate Carney syndrome, did not reveal any abnormalities. The postoperative course was favorable, and no complications were noted. The patient was under follow-up. There was no recurrence 1 year after surgery.

Three cases of Carney complex in the children: clinical and molecular-genetic features of Carney complex in the children (the first description in Russia)

Carney complex is a rare autosomal dominant condition that manifests itself as a combination of lentiginosis, heart and skin myxomas, primary pigmented micronodular adrenocortical hyperplasia with ACTH-independent hypercorticism, calcifying Sertoli cell testicular tumours, schwannomas, thyroid and breast tumours, and other neoplasms. A total of 400 patients presenting with this pathology has thus far been described worldwide. 75% of the patients with Carney complex were found to have mutations in the gene encoding for the regulatory alpha-subunit of proteinkinase A (PRKARIA). The present paper presents three cases of Carney syndrome diagnosed in adolescents. Two new mutations in the PRKARIA gene were identified (c.1111_1112insC (pp.Q370fsX11) and c.1016T>A (p.339V>D)). One of the patients had adrenal adenoma. To the best of our knowledge, it is the first case of benign adrenal tumour greater than 2 cm in size in the patient with Carney complex.