Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors that have a high degree of heritability and are predominantly associated with mutations in ten genes, such as SDHx, SDHAF2, VHL, RET, NF1, TMEM127, MAX, FH, MEN2, and SLC25A11. Elucidating the mutation prevalence is crucial for the development of genetic testing. In this study, we identified pathogenic/likely pathogenic variants in the main susceptibility genes in 102 Russian patients with HNPGLs (82 carotid and 23 vagal paragangliomas) using whole exome sequencing. Pathogenic/likely pathogenic variants were detected in 43% (44/102) of patients. We identified the following variant distribution of the tested genes: SDHA (1%), SDHB (10%), SDHC (5%), SDHD (24.5%), and RET (5%). SDHD variants were observed in the majority of the patients with bilateral/multiple paragangliomas. Thus, among Russian patients with HNPGLs the most frequently mutated gene was SDHD followed by SDHB, SDHC, RET, and SDHA.

Summary: Capsular contracture is one of the most common complications after breast reconstruction. Surgical treatment is the main option for capsular contracture correction and includes capsulotomy, capsulectomy, and removal/replacement of the affected implant. However, the surgical trauma from reoperation, along with reduced quality of life, in patients with clinically significant capsular contracture has prompted a search for alternative treatment options. The use of the botulinum toxin type A in the treatment of neurological diseases and of keloid scars in aesthetic practice nudged the idea of using the same toxin for the correction of capsular contractures in breast cancer patients. Botulinum toxin type A injection is an easy procedure requiring no anesthesia or inpatient care. The treatment has few side effects. In addition, the injection does not cause sensory loss or dysesthesia. We described a clinical case of the capsular contracture correction using incobotulinumtoxin A. Capsular contracture IV developed 4 months post surgery after long-term lymphorrhea. Radiation therapy was not performed. According to the internal protocol, the patient was advised to undergo incobotulinumtoxin A treatment instead of surgery. Within 1 week after the second injection, all symptoms decreased—specifically, the general shape of the reconstructed breast. Also, the pain syndrome disappeared.

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