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CZECH MEDICAL ASSOCIATION J. Ev. PURKYNĚ |
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Česky / Czech version | Čes.-slov. Patol., 43, 2007, No. 3, p. 109–113 |
Bloch-Sulzberg Syndrome in Pathology Adamicová K1., Fetisovová Ž2., Máliš V3., Málišová S2 1Ústav patologickej anatómie, 2Kožná klinika a 3Očná klinika Jesseniova lekárska fakulta v Martine Univerzity Komenského v Bratislave a Martinská fakultná nemocnica v Martine |
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Summary: 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).
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