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Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
Published on: December 15, 2011
Incontinentia pigmenti in combination with decreased IgG subclass concentrations in a female newborn
Eva Pauly1, Otwin Linderkamp, Johannes Pöschl
1Department of Neonatology, University Children's Hospital of Heidelberg, Heidelberg, Germany. Eva.Pauly@med.uni-heidelberg.de
Abstract:
Incontinentia pigmenti (IP) is a rare neurocutaneous disorder caused by mutations in the NEMO (NF-kappaB essential modulator) gene. Skin lesions are typically the first manifestation of IP though they may be accompanied by multiple malformations. This report presents the case of a female newborn with early onset of IP lesions within the 1st day of life. After the age of 1 month she developed frequent episodes of severe gastroenteritis. Examination of the immune system revealed low concentrations of IgG subclasses. This study suggests that, contrary to previous belief, IP is associated with immune deficiency.
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