Ангидротическая эктодермальная дисплазия. Синдром Криста–Сименса–Турена. Диагностическая одиссея

Abstract

Diagnosis of rare (orphan) diseases remains a challenging problem in practical healthcare. This is due to the lack of literacy of the medical community regarding orphan diseases. Symptoms of hereditary diseases are varied, often the lesion affects different organs and systems, requiring the work of a multidisciplinary team in the diagnosis and management of such patients. It is the coordinated work of many specialists that helps improve the quality of life of patients and a favorable prognosis for survival. The publication of a clinical case is aimed at improving the information literacy of medical workers.