[Bloch-Sulzberg syndrome in pathology]

Cesk Patol. 2007 Jul;43(3):109-13.
[Article in Slovak]

Abstract

The authors present some pathological findings in the skin and hair of the child affected by rather rare Bloch-Sulzberg syndrome manifested in incontinentia pigmenti, followed for 10 years. In this work are presented also some recent data about pathogenesis of the disease with X-chromosome dominant heredity, primary of neuroectodermal origincaused by mutation of nuclear factor kappa-B of essential modulator (NEMO) of the gene (chromosomal locus Xq28).

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Child
  • Female
  • Humans
  • Incontinentia Pigmenti / pathology*
  • Skin / pathology