Ангидротическая эктодермальная дисплазия у новорожденного ребенка (клиническое наблюдение)

Abstract

The article describes step-by-step diagnostic approach for identifying the cause of fever in a newborn: from excluding infections and noninfectious factors provoking impaired thermoregulation to the diagnosis of a rare congenital disorder, anhidrotic ectodermal dysplasia (EDA) confirmed by genetic testing. EDA is a hereditary condition caused by mutations in the EDA gene encoding prenatal development of ectodermal derivatives. The main phenotypic signs of EDA are aplasia (hypoplasia) of sweat glands, dysplasia of skin and its appendages (hypotrichosis, nail hypoplasia etc.), and hypodontia. Hypoplasia or aplasia of the sweat glands results in impaired thermoregulation and, therefore, hyperthermia. Since hair and dental dysplasia do not manifest in newborns, EDA is commonly missed in newborns and diagnosed lately. Fever is one of the dangerous manifestations of EDA that, in tight swaddling, may result in death. Nonspecific clinical presentations of EDA in newborns require consultations with other specialists. Recognition of EDA clinical signs in newborns and infants (craniofacial dysmorphism, thin and dry skin, periorbital hyperpigmentation, reduction in body temperature after external cooling observed in the child) allows for early diagnosis and determines cooling strategy and further lifestyle. KEYWORDS: newborn, hyperthermia, anhidrotic ectodermal dysplasia, fever in newborns, differential diagnosis, causes of fever, molecular genetic testing. FOR CITATION: Akhmina N.I., Nikopol’skaya A.V., Bragina E.M. et al. Anhidrotic ectodermal dysplasia in a newborn: case history. Russian Journal of Woman and Child Health. 2020;3(4):340–343. DOI: 10.32364/2618-8430-2020-3-4-340-343.