Pauly Eva, Linderkamp Otwin, Pöschl Johannes
Department of Neonatology, University Children's Hospital of Heidelberg, Heidelberg, Germany.
Biol Neonate. 2005;88(3):172-4. doi: 10.1159/000087416. Epub 2005 Aug 9.
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.
