Incontinentia pigmenti. A rare disease with many symptoms

摘要: Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare multi-systemic disorder. The disease characterised by abnormalities in ectodermal tissues including the skin, eyes, central nervous system and dentition. It inherited an X-linked dominant trait usually fatal for male fetuses. Thirty-eight Swedish patients from 16 families were identified. Thirty examined clinically their DNA analysed deletions NEMO-gene. showed large clinical variability even within common deletion NEMO-gene was found present 70% of families.