Compliance with ethical standards: the study was approved by the Ethics Committee of Ural State Medical University (Protocol № 1451/19 dated September 20, 2019). The patient gave informed consent to participate in the study.

Author contribution: Belykh NA analyzed the literature, made the differential diagnosis, participated in establishing the definitive diagnoses followed the patient up for 3 years. Akhkyamova MA examined the patient, collected her medical history, participated in establishing the diagnosis, followed the patient up for 3 years, wrote the manuscript. Gusev VV followed the patient up; ordered diagnostic tests, prescribed treatment and monitored its course; provided the patient’s medical history; helped with the application to the Ethics Committee. Lvova OA advised the patient on the genetic test and interpreted its results.