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

Ogonkliniken, Akademiska sjukhuset, Uppsala.
Lakartidningen 04/2002; 99(12):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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    ABSTRACT: Impaired ability to signal and activate specific gene transcription through nuclear factor kappaB (NFkappaB) has been directly linked to immunodeficiency. Hypomorphic mutations in the gene encoding NFkappaB essential modulator (NEMO), located on the X chromosome, impair NFkappaB function and lead to ectodermal dysplasia with immunodeficiency (ED-ID) with increased susceptibility to pyogenic bacteria, viruses and nonpathogenic mycobacterial infections. This is due to impaired, but not abolished, response to a variety of stimuli including Toll-like receptor agonists. Alternatively, loss-of-function (amorphic) mutations in the same gene lead to incontinentia pigmenti. The purpose of this review is to explore the range of immunologic defects associated with mutations in NEMO, a key regulatory molecule in the NFkappaB pathway. In addition to the discovery of X-linked recessive hypomorphic mutations in NEMO as the cause of anhidrotic ED-ID, autosomal-dominant hypermorphic mutations in inhibitor of NFkappaB (IkappaB) alpha have been described recently. In addition, a better understanding of genotype-phenotype correlation in ED-ID patients is evolving. ED-ID is a combined, variable but profound immunodeficiency characterized by susceptibility to pyogenic bacteria and mycobacterial infection. Understanding the features of particular NEMO mutations will provide insight into the role of this gene and will help define the crucial role of the function and regulation of NFkappaB in the immune response.
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