Синдром Клерикузио (пойкилодерма с нейтропенией)

Clericusio syndrome is a rare genetic disease belonging to the group of congenital neutropenias, first described by S. Clericuzio et al. in 1991, in 14 patients from the Navajo tribe. It is characterized by poikiloderma and neutropenia, with recurrent infections and a high risk of developing myelodysplastic syndrome. Approaches to therapy are not optimized due to the rarity of this pathology. The article provides an overview of the data on the disease available to date, and discusses the case of Clericusio syndrome in a 5-year-old boy, from an early age observed in Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. Parents gave their permission for using personal data for clinical research and publications.