Severe Bloch—Sulzberger syndrome in a newborn baby

Abstract

The diagnosis of neonatal skin diseases is often a complicated interdisciplinary problem. The authors present the data available in the literature data and their clinical observation of a newborn baby with Bloch—Sulzberger syndrome, a rare genetic dermatosis. The specific feature of the observation is the development of the disease immediately after birth and its complex differential diagnosis. Central nervous system involvement as epilepsy syndrome determines the severity of the patient's condition and seriously affects the prognosis of the disease. The issues of in-depth studies using molecular genetic technologies that enhance the value of medical genetic counseling to the family are discussed.