Incontinentia Pigmenti: A Description of a Clinical Case.

Abstract

Bloch-Sulzberger syndrome is a rare genetic disease that has both cutaneous and extra cutaneous manifestations, is more common in females and in most cases, intrauterine male fetuses are detected. There is a report of isolated cases of the presence of the syndrome in males. The pathology manifests itself as a result of the NEMO (nuclear factor-kB essential modulator)/IKK-γ (inhibitor kappa kinase-γ) mutation of the gene located on the Xq28 chromosome. The skin is primarily affected by linearly arranged blisters. In this case, the inflammatory stage may be absent or manifest in utero. Skin manifestations are already present at birth and are difficult to differentiate between non-infectious and non-infectious manifestations. Treatment of skin symptoms of pigment incontinence is often not required as they may resolve spontaneously. However, it should be noted that the early diagnosis of skin manifestations, the significance of which, can be identified by identifying the affected target organs to identify and exclude the detection of fatal complications in the future. This disease is very important for the diagnosis of infectious and non-infectious skin diseases in young children and, in particular, neonatal periods. The presented case is a case from practice in the context of the work of a pediatrician, neonatologist with children with this pathology. In this clinical case, it is possible to trace the clinical picture of the disease in infancy with the further fate of the child for 7 years.