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Journal of the American Academy of Dermatology
Volume 58, n° 2
pages 316-320 (février 2008)
Doi : 10.1016/j.jaad.2007.02.024
Case Reports

A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway

Timothy T. Chang, MD a, Ramona Behshad, BA b, Robert T. Brodell, MD b, c, Anita C. Gilliam, MD, PhD a,
a Department of Dermatology, Case Western Reserve University, University Hospitals of Cleveland, Cleveland, Ohio 
b Case Western Reserve University School of Medicine, Cleveland, Ohio 
c Northeastern Ohio Universities College of Medicine, Warren, Ohio 

Reprint requests: Anita C. Gilliam, MD, PhD, Department of Dermatology, Case/University Hospitals of Cleveland, 11100 Euclid Ave, Cleveland, OH 44106-5028.

Patients with anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID) have mutations in the gene on the X chromosome encoding nuclear factor κB (NF-κB) 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-κB 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.

The full text of this article is available in PDF format.

Abbreviations used : EDA-ID, NEMO, NF-κB, IKK, IP, IVIg

 Funding sources: Dr Gilliam received the Dermatology Foundation Novartis Clinical Career Development Award, NIH NIAMS R01 AR 049284, and the NIH NIAMS Case Skin Diseases Research Center (SDRC) P30-AR 39750.
 Conflicts of interest: None declared.
 Presented at the poster session at the 42nd Annual Meeting, The American Society of Dermatopathology, Seattle, Washington, October 2005.

© 2008  American Academy of Dermatology, Inc.@@#104156@@
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