Article

[Incontinentia pigmenti. A rare disease with many symptoms].

Ogonkliniken, Akademiska sjukhuset, Uppsala.
Lakartidningen 04/2002; 99(12):1345-50. pp.1345-50
Source: PubMed

ABSTRACT 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.

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Keywords

16 families
 
central nervous system
 
common deletion
 
deletions
 
ectodermal tissues
 
fatal
 
Incontinentia pigmenti
 
large clinical variability
 
male fetuses
 
patients
 
rare multi-systemic disorder
 
Swedish patients
 
X-linked dominant trait