Incontinentia pigmenti in a boy with Klinefelter's syndrome.

Clinical Study of 40 Cases of Incontinentia Pigmenti

“…51 Genetically, such cases may be explained by the presence of the Klinefelter syndrome (47,XXY) or early somatic mutation of the NEMO gene. [51][52][53][54] Interestingly, NEMO mutations have also been reported in anhidrotic ectodermal dysplasia with immune deficiency. 55 This emphasizes the strong relations between these 2 diseases affecting ectoderm-derived structures.…”

Incontinentia pigmenti in male patients

“…10,13 Of the 64 cases, 5 patients had abnormal karyotypes consistent with Klinefelter's syndrome (47, XXY). 10,[14][15][16][17][18] One of these patients continues to be followed up by us, 14,16 and shows only cutaneous and dental manifestations. Analysis of the NEMO gene in one patient with Klinefelter's syndrome showed the common deletion mutation in the maternal X chromosome, which was randomly inactivated in cells, presumably allowing survival.…”

NEMO, NFκB signaling and incontinentia pigmenti

“…Previously, we knew only that male patients with IP and a 47,XXY karyotype could survive [28][29][30][31][32][33]. Somatic mutation resulting in mosaicism for an IP mutation is another mechanism compatible with survival, and we have recently reported four patients with these two mechanisms [34].…”