Bloch-Sulzberger syndrome
Abstract
Bloch-Sulzberger syndrome (incontinentia pigmenti, disorder of pigmentation) is a rare X-linked dominant genodermatosis. Skin manifestation occurs as early as in neonatal or fetal period and evolves characteristically with time. Involvements appear also in skin appendages, skeletal system, ocular and central nervous system. The incidence of incontinentia pigmenti is 1:75 000 births. It affects mainly females, in males it tends to be lethal. We present a case report of a two female newborn, who developed skin manifestation typical for this syndrome. Later on they developed CNS.
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