Bloch-Sulzberger syndrome

Authors

  • Natalia Urbaniak Z Klinicznego Oddziału Pediatrii z Pododdziałem Neurologii Dziecięcej Szpitala Wojewódzkiego nr 2 w Rzeszowie
  • Elżbieta Czyżyk Z Klinicznego Oddziału Pediatrii z Pododdziałem Neurologii Dziecięcej Szpitala Wojewódzkiego nr 2 w Rzeszowie
  • Artur Mazur Z Klinicznego Oddziału Pediatrii z Pododdziałem Neurologii Dziecięcej Szpitala Wojewódzkiego nr 2 w Rzeszowie; Z Wydziału Medycznego Uniwersytetu Rzeszowskiego https://orcid.org/0000-0001-5393-3515
  • Bartosz Korczowski Z Klinicznego Oddziału Pediatrii z Pododdziałem Neurologii Dziecięcej Szpitala Wojewódzkiego nr 2 w Rzeszowie; Z Wydziału Medycznego Uniwersytetu Rzeszowskiego https://orcid.org/0000-0003-1626-1283

Abstract

Bloch-Sulzberger syndrome (incontinentia pigmenti, disorder of pigmentation) is a rare X-linked dominant genodermatosis. Skin manifestation occurs as early as in neonatal or fetal period and evolves characteristically with time.  Involvements appear also in skin appendages, skeletal system, ocular and central nervous system. The incidence of incontinentia pigmenti is 1:75 000 births. It affects mainly females, in males it tends to be lethal.  We present a case report of a two female newborn, who developed skin manifestation typical  for this syndrome. Later on they developed CNS.

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References

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Published

2012-03-30

How to Cite

Urbaniak, N., Czyżyk, E., Mazur, A., & Korczowski, B. (2012). Bloch-Sulzberger syndrome. European Journal of Clinical and Experimental Medicine, 10(1), 136–141. Retrieved from https://journals.ur.edu.pl/ejcem/article/view/12791

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