Incontinentia pigmenti. a rare disease with many symptoms
Holmström, G.; Bergendal, B.; Hallberg, G.; Marcus, S.; Hallén, A.; Dahl, N.
Lakartidningen 99(12): 1345-1350
2002
ISSN/ISBN: 0023-7205 PMID: 11998169 Document Number: 541211
Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare multi-systemic disorder. The disease is characterised by abnormalities in ectodermal tissues including the skin, eyes, central nervous system and dentition. It is inherited as an X-linked dominant trait and is usually fatal for male fetuses. Thirty-eight Swedish patients from 16 families were identified. Thirty patients were examined clinically and their DNA were analysed for deletions in the NEMO-gene. The disease showed a large clinical variability even within families and the common deletion in the NEMO-gene was found present in 70% of the families.