Entzündliches Stadium der Incontinentia pigmenti (Bloch-Sulzberger-Syndrom)

Berlin AL, Paller AS, Chan LS (2002) Incontinentia pigmenti: a review and update on the molecular basis of pathopysiology. J Am Acad Dermatol 47: 169–187 Fusco F, Bardaro T, Fimiani G et al. (2004) Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation. Hum Mol Genet 13: 1763–1773 Hadj-Rabia S, Froidevaux D, Bodak N et al. (2003) Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol 139: 1163–1170 Happle R (2002) Dohi memorial lecture: New aspects of cutaneous mosaicism. J Dermatol 29: 681–692 Kenwrick S, Woffendin H, Jakins T et al. (2001). Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet 69: 1210–1217 Reifenberger J, Kruse R, Schön MP et al. (1999) Incontinentia pigmenti bei einem männlichen Neugeborenen. Z Hautkr 74: 578–579 Smahi A, Courtois G, Vabres P et al. (2000) Genomic rearrangement in NEMO impairs NF-kappa B activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 405: 466–472