Chapter title |
Incontinentia pigmenti (Bloch-Sulzberger syndrome).
|
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Book title |
Neurocutaneous Syndromes
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Published in |
Handbook of clinical neurology, January 2015
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DOI | 10.1016/b978-0-444-62702-5.00020-2 |
Pubmed ID | |
Book ISBNs |
978-0-444-62702-5
|
Authors |
Narayanan, Mohan J, Rangasamy, Sampathkumar, Narayanan, Vinodh, Mohan J. Narayanan, Sampathkumar Rangasamy, Vinodh Narayanan |
Abstract |
Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome; OMIM #308300) is an X-linked dominant neurocutaneous disorder with presumed male lethality. It is usually diagnosed in female newborns based on skin features (erythematous, vesicular, or bullous eruption in linear streaks). The skin lesions evolve into a verrucous stage, followed by atrophy and scarring, leaving linear areas of hypopigmentation and hyperpigmented macules in bizarre patterns following Blaschko's lines. Systemic and neurologic complications include focal seizures and hemorrhagic cerebral infarction in infants, and retinal vasculopathy leading to blindness. Hypodontia, conical or pegged teeth, and linear areas of alopecia persist into adulthood. IP is caused by mutation of the IKBKG/NEMO gene on Xq28. Deletion of exons 4 to 10 (NEMOΔ4-10) accounts for about 80% of cases (familial and sporadic). NEMO mutation leads to loss of function of NF-κB, a critical protein that modulates cellular proliferation, apoptosis, and response to proinflammatory factors, leading to the characteristic features of IP. In female carriers, selective loss of cells expressing the mutant X-chromosome results in completely skewed X-inactivation in the majority of cases. Study of mouse models in which various components of the NF-κB pathway (including NEMO) have been knocked out has contributed significantly to our understanding of disease pathogenesis. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 2% |
Unknown | 56 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 9 | 16% |
Student > Postgraduate | 6 | 11% |
Other | 6 | 11% |
Student > Doctoral Student | 6 | 11% |
Student > Master | 6 | 11% |
Other | 9 | 16% |
Unknown | 15 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 28 | 49% |
Biochemistry, Genetics and Molecular Biology | 3 | 5% |
Agricultural and Biological Sciences | 3 | 5% |
Nursing and Health Professions | 2 | 4% |
Neuroscience | 2 | 4% |
Other | 3 | 5% |
Unknown | 16 | 28% |