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Text
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URL Address
<a href="http://doi.org/10.1016/j.jaad.2007.02.024" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.jaad.2007.02.024</a>
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Pages
316-320
Issue
2
Volume
58
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Title
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A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway
Publisher
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Journal of the American Academy of Dermatology
Date
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2008
2008-02
Subject
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Dermatology; dysplasia; immunodeficiency
Creator
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Chang T T; Behshad R; Brodell R T; Gilliam A C
Description
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Patients with anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID)) have mutations in the gene on the X chromosome encoding nuclear factor kappa B (NF-kappa B) essential modulator (NEMO), resulting in conical teeth, sparse hair, anhidrosis or hypohydrosis, and recurrent bacterial infections. The same gene is mutated in incontinentia pigmenti (IP), and mutations that do not completely abolish NF-kappa B activity allow survival of male fetuses. We present a case of a 1-year-old boy with a history of EDA-ID) who was evaluated for an eruption that intermittently affected his scalp, upper back, cheeks, legs, and arms. A biopsy specimen taken from the back showed the presence of compact dyskeratotic cells with fragmented nuclei and numerous apoptotic keratinocytes scattered throughout the spinous and granular layer. The diagnosis of EDA-ID) with IP was made. This case illustrates the complexity and overlapping features of the genodermatoses involving signaling pathways of the cell.
Identifier
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<a href="http://doi.org/10.1016/j.jaad.2007.02.024" target="_blank" rel="noreferrer noopener">10.1016/j.jaad.2007.02.024</a>
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Journal Article or Conference Abstract Publication
2008
Behshad R
Brodell R T
Chang T T
Dermatology
Dysplasia
Gilliam A C
immunodeficiency
Journal Article or Conference Abstract Publication
Journal of the American Academy of Dermatology