A CONGENITAL MALFORMATION. ECTODERMAL DYSPLASIA. IDENTIFICATION CRITERIA, CLINIC

Abstract

This article presents a clinical case of a congenital developmental disorder in the form of "Ectodermal Dysplasia" in combination with other congenital anomalies. Ectodermal dysplasia is a group of congenital diseases characterized by abnormalities in the development of tissues derived from the ectoderm, such as skin, hair, nails, and teeth. Diagnosing this condition requires genetic analysis and consideration of several criteria based on clinical manifestations and available investigations. The article discusses clinical and anamnesis data, laboratory results, instrumental findings, and social aspects. Special attention is given to a detailed description, including photographs, of a 2-year-old girl diagnosed with ectodermal dysplasia in conjunction with other congenital malformations affecting the central nervous, cardiovascular, musculoskeletal, and urinary systems. The analysis of this case not only helps to systematize existing knowledge about the condition but also provides insights into its interaction with other pathologies. Thus, the article highlights the importance of a comprehensive approach to diagnosing ectodermal dysplasia, emphasizing the need for early detection and individualized care for each patient to ensure effective support.