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Bloch-Sulzberg Syndrome in Pathology


Authors: K. Adamicová 1;  Ž. Fetisovová 2;  V. Máliš 3;  S. Málišová 2
Authors‘ workplace: Ústav patologickej anatómie, 2Kožná klinika a 3Očná klinika Jesseniova lekárska fakulta v Martine Univerzity Komenského v Bratislave a Martinská fakultná nemocnica v Martine 1
Published in: Čes.-slov. Patol., 43, 2007, No. 3, p. 109-113
Category: Original Article

Overview

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).

Key words:
Bloch-Sultzberg syndrom – incontitentia pigmenti – histology of the skin – pilli bifurcati


Labels
Anatomical pathology Forensic medical examiner Toxicology
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