Bloch–Sulzberger syndrome (Incontinentia pigmenti)

Bloch–Sulzberger syndrome or Incontinentia pigmenti is a genetic disease that causes skin pathology in the first days of a child's life and is suspected of identifying the disease.

The article presents the characteristic signs of this syndrome and the pronounced manifestations of the disease. A presumptive case of a girl born in a family without a burdened anamnesis: the first manifestations of the disease appeared on the fifth day of life, were represented by linearly arranged vesicular-bullous rashes on an erythematous background and were regarded as a skin infection. Due to the ineffectiveness of the therapy, the patient was consulted by a dermatovenerologist, geneticist, neurologist. The child was consulted again at 5.5 years old: the article presents the data of a medical and genetic study and distant clinical signs of this syndrome in the form of hyperpigmented spots in combination with foci of atrophy, alopecia and dental anomalies in the sixth year of life.

Thus, the clinical signs of Bloch–Sulzberger syndrome made it possible to diagnose the disease at the newborn stage, which, in turn, helped to avoid unjustified prescribing of various systemic medications, to develop an individual treatment plan for the child and, as a result, contributed to the prevention of the development of complications of the disease and to improve the patient's quality of life.