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Observation
December 2015

IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy

Author Affiliations
  • 1Department of Neurology and Neurotherapeutics, The University of Texas Southwestern Medical Center, Dallas
  • 2Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas
  • 3Department of Dermatology, The University of Texas Southwestern Medical Center, Dallas
  • 4Department of Pathology, The University of Texas Southwestern Medical Center, Dallas
  • 5Department of Internal Medicine, The University of Texas Southwestern Medical Center, Dallas
  • 6Eugene McDermott Center for Human Growth & Development/Center for Human Genetics, The University of Texas Southwestern Medical Center, Dallas
  • 7Department of Physiology, The University of Texas Southwestern Medical Center, Dallas
  • 8Rare Brain Disorders Program, The University of Texas Southwestern Medical Center, Dallas
JAMA Neurol. 2015;72(12):1533-1535. doi:10.1001/jamaneurol.2015.2795

Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is an X-linked dominant genodermatosis affecting skin and other organs, including the brain, with variable expressivity. Incontinentia pigmenti results from mutations in the inhibitor of κ-β-kinase-γ gene (IKBKG), which is located on Xq28. Deletions in this gene result in loss of function, leading to a wide variety of manifestations.1 This mutation is often lethal in males, resulting in miscarriage of male fetuses. Previously proposed revised diagnostic criteria2 included as major criteria any of 4 types of IP skin lesions and several minor criteria including anomalies of the brain, eyes, oral cavity, breasts, nipples, hair, and nails in a typical context of multiple male miscarriages and characteristic skin histopathology findings.

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