Incontinentia pigmenti: XXY male with a family history

Abstract

We report on the case of a male who from the start of life displayed vesicular lesions; on the trunk these were clustered and on the limbs they adopted a linear configuration. After biopsy of one such lesion, the histopathological study was compatible with a diagnosis of incontinentia pigmenti (IP). In the following months, hyperkeratotic lesions appeared which later became pigmented. The mother and other female members of the family also showed different degrees of alteration related to the same disease. The karyotype study showed the existence of 47,XXY (Klinefelter syndrome). The exceptional nature of this case is that although it is the third case reported in the literature of a male affected by incontinentia pigmenti with a previous family history, it is the only one combining this characteristic with the presence of a 47,XXY karyotype.

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.…”

Incontinentia Pigmenti in Boys: A Series and Review of the Literature

“…One of these patients had a phenotype consistent with hypohidrotic ectodermal dysplasia, immune deficiency, and features typical of IP (5). Six instances of male IP and Klinefelter syndrome have been published in the literature (3,15–19). After 1993, five male IP patients with clinical features corresponding to Landy and Donnai's criteria (1) were diagnosed with NEMO gene mutations (3,5).…”

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].…”