Incontinentia pigmenti: variable disease expression within an affected family.

J Eur Acad Dermatol Venereol

Department of Dermatology, Ealing Hospital NHS Trust, Southall, Middlesex, UK.

Published: September 1998

We report a florid case of incontinentia pigmenti in a neonate in which linear vesiculobullous, verrucous and pigmented lesions were present simultaneously at birth. Histology of a vesiculobullous lesion showed vesiculation with numerous eosinophils in the epidermis, and a sparse infiltrate in the dermis with pigmentary incontinence. The mother of our patient described a streaky linear rash on her legs during her own childhood which resolved spontaneously, in addition to partial anodontia, suggesting that she too has the disease, although previously undiagnosed. This emphasises the variable disease expression and the importance of recognising this condition so that patients can be followed up with regard to complications, and genetic counselling can be offered. The issue of prenatal diagnosis is discussed.

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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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