[Incontinentia pigmenti in a newborn boy]

Ugeskr Laeger. 2021 Jun 21;183(25):V03210247.
[Article in Danish]

Abstract

Incontinentia pigmenti is an uncommon X-linked dominant neurocutaneous ectodermal dysplasia. The disorder is usually lethal in males in utero, although it may occasionally occur in males with somatic mosaicsism or Klinefelter syndrome. This is a case report of a rare case of incontinentia pigmenti in a newborn male who presented with characteristic skin eruptions following Blaschko's lines. Histopathology and genetic testing confirmed the diagnosis. The management of patients with incontinentia pigmenti may require a multidisciplinary approach, and early diagnosis is of great importance.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Incontinentia Pigmenti* / diagnosis
  • Incontinentia Pigmenti* / genetics
  • Infant, Newborn
  • Klinefelter Syndrome*
  • Male