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A Newborn Girl with Blisters

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Clinical Cases in Pediatric Skin Cancers

Part of the book series: Clinical Cases in Dermatology ((CLIDADE))

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Abstract

Incontinentia pigmenti is caused by a mutation in NEMO/IKKγ gene which locates on X chromosome, which is lethal for male fetuses. It involves skin, teeth, hair or neurologic system. The cutaneous lesions distribute on the extremities along Blaschko’s lines, which usually occur in sequelae including vesicular, verrucous, hyperpigmented and atrophic stages. The vesicles usually are found at birth or within a few weeks of life and resolve spontaneously in a few days to weeks. The diagnosis is relatively easy if the the baby present with typical skin manifestations. The data of a female relative with confirmed incontinentia pigmenti or a gene defect of NEMO has a significant role for the diagnosis. Here we report a case of incontinentia pigmenti in a neonate girl with blisters.

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References

  1. Legarda-Addison D, et al. NEMO/IKK- gamma regulates an early NF-kappaB-independent cell-death check- point during TNF signaling. Cell Death Differ. 2009;16(9):1279–88.

    Article  CAS  Google Scholar 

  2. Kenwrick S, et al. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet. 2001;69(6):1210–027.

    Article  CAS  Google Scholar 

  3. Minić S, et al. Incontinentia pigmenti diagnostic criteria update. Clin Genet. 2014;85(6):536–42.

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  4. Dogbevia GK, et al. Gene therapy decreases seizures in a model of Incontinentia pigmenti. Ann Neurol. 2017;82(1):93–104.

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Xu, HH., Gao, XH. (2022). A Newborn Girl with Blisters. In: Satolli, F., Tirant, M., Wollina, U., Lotti, T.M. (eds) Clinical Cases in Pediatric Skin Cancers. Clinical Cases in Dermatology. Springer, Cham. https://doi.org/10.1007/978-3-030-93666-2_12

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  • DOI: https://doi.org/10.1007/978-3-030-93666-2_12

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-93665-5

  • Online ISBN: 978-3-030-93666-2

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