Incontinentia pigmenti (IP) is a rare genodermatosis. Skin lesions, that are present in all patients affected, evolve in stages. The first is the erythematous blistering stage, wich differential diagnosis includes a wide variety of diseases. We present a case of a female neonate with blisters present at birth, where the skin biopsy confirmed the diagnosis of IP.

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http://dx.doi.org/10.1590/S0325-00752011000300015DOI Listing

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Article Synopsis
  • Incontinentia pigmenti (IP) is a rare X-linked dominant disorder linked to the IKBKG gene, and this study highlights the need for more research on its epidemiology in Denmark.
  • A nationwide study identified 75 patients with IP, predominantly females, and estimated the birth prevalence at 2.37 per 100,000 live births, which is significantly higher than previous estimates.
  • The study found that many patients exhibited typical skin lesions and other symptoms affecting teeth, the nervous system, hair, eyes, and nails, indicating a multisystem impact of the disorder.
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