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| http://dx.doi.org/10.1016/j.jdcr.2023.07.036 | DOI Listing |
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Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene.
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Clinique de Génétique Guy Fontaine, CHU Lille, Lille, France.
Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is a multisystem disorder which associates specific skin lesions that evolves in four stages, and occasionally, central nervous system, eye, hair, and teeth involvement. Familial (35%) and sporadic (65%) cases are caused by pathogenic variants in the IKBKG gene. Here we report an unusual family, where, in two half-sisters affected by typical IP, molecular genetic analysis identified a likely pathogenic non-sense variant in the IKBKG gene of one of the sisters, the other being not a carrier.
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The Second Clinical Medical College, Guangzhou University of Traditional Chinese Medicine, Guangzhou, China.
Incontinentia pigmenti (IP) is a rare neuroectodermal dysplasia caused by mutations in the IKBKG gene. We present a case of a 4-month-old female infant with erythematous vesicular skin lesions on the trunk and extremities. Histopathologic examination of the blisters revealed an eosinophilic infiltrate.
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Department of Ophthalmology, The First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi Province, China.
Background: Incontinentia pigmenti (IP) is a rare X-linked genetic disease. It mainly manifests as skin lesions and causes problems in the eyes, teeth, bones, and central nervous system. Of the various ocular manifestations, the most severe with difficult recovery is retinal detachment (RD).
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