Hypomelanosis of Ito: description of the clinical case

Abstract

This work is devoted to a literature review and description of a clinical case of Hypomelanosis of Ito. Considering the rare frequency of the disease, not much literature data has been accumulated to date. The description of the disease can be interesting for a number of reasons. Hypomelanosis of Ito is a congenital variant of phacomatosis affecting the skin and nervous system. The disease appears sporadic. The majority of cases are diagnosed clinically, which is due to the lack of a precisely established molecular defect and, as a result, the «difficulties» of molecular diagnostic. This is evidenced by the absence of standard genetic analysis. Cytogenetic and molecular genetic diagnostic methods often do not establish a «causal» mutation. This description of the clinical case of the disease is dedicated to the child who was observed in the Department of Pediatric Neurology of Saint-Petersburg State Pediatric Medical University. The patient was diagnosed clinically in early childhood; the leading symptoms of the disease were delayed speech development and epileptic seizures. No family history of neurocutaneous disorders was noted.Given the different approaches to the genetic verification of the syndrome, some methods of cytogenetic diagnostics were performed at the department, as the most frequently prescribed study to date. According to the results of the studies, no damage was found. Given the fact that genetic verification itself does not affect the prognosis and management of patients, it was decided not to continue molecular diagnostics.