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IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy

Deepali Eksambe, MD1,2; Nnenna Agim, MD3; Naseem Uddin, MD4; Garrett Gotway, MD, PhD5,6; Juan M. Pascual, MD, PhD1,2,6,7,8
[+] 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.
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This case report describes an infant girl who presented at birth with erythematous vesicles on her hands, progressing to scaly, erythematous plaques on her head, neck, trunk, and extremities in a blaschkoid pattern.

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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Figure.
Manifestations of Incontinentia Pigmenti Associated With IKBKG Deletion

A, Rash on the torso. B, Rash in blaschkoid pattern in the upper extremity. C and D, Skin biopsy showing inflammatory stage lesions typical of incontinentia pigmenti (hematoxylin-eosin; C, original magnification ×100 and D, original magnification ×400). The white arrowheads indicate dyskeratotic keratinocytes; red arrowheads, spongiosis; blue arrowheads, intraepidermal and dermal inflammatory infiltrate including eosinophils and lymphocytes; black arrowheads, intraepidermal vesicles containing eosinophils; and yellow arrowhead, normal skin at the edge of the biopsy for comparison. E, The first 4 columns of images show diffusion-weighted axial magnetic resonance imaging (MRI) scans obtained across the entire encephalon demonstrating areas of restricted diffusion throughout the right cerebral hemispheres. The images in the fifth column show postcontrast axial fluid-attenuated inversion recovery MRI images illustrating ring enhancement in areas of restricted diffusion.

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