https://orcid.org/0000-0001-6801-7106
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Z. Alabdullatif, J. Coulombe, J. Steffann, C. Bodemer, S. Hadj‐Rabia, Postzygotic mosaicism and incontinentia pigmenti in male patients: molecular diagnosis yield, British Journal of Dermatology, Volume 178, Issue 4, 1 April 2018, Pages e261–e262, https://doi.org/10.1111/bjd.16092
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Funding sources: none.
Conflicts of interest: none declared.
Dear Editor, Incontinentia pigmenti (IP; MIM 308300) is an X‐linked dominant genodermatosis caused by the more frequently occurring (80% of cases) deletion mutation Δ4–10 on IKBKG, located on chromosome Xq28. IP is generally lethal in male fetuses, whereas heterozygous females survive owing to functional mosaicism.1 Two potential mechanisms have been proposed to explain the survival of males with IP carrying the IKBKG mutation: (i) abnormal karyotype, i.e. 47,XXY (Klinefelter syndrome); (ii) and, more frequently, postzygotic mosaicism for IKBKG mutation.2 Detection of postzygotic mosaicism is dependent on the location of tissue sampling and percentage of mutated cells in the sample. In patients with IP, skin lesions have been hypothesized to be the best tissue in which to detect the mutation.3 A monocentric retrospective chart review from 1996 to 2017 was conducted to evaluate the yield of detection of the Δ4–10 deletion mutation on IKBKG in blood and lesional skin samples of paediatric male patients with IP. Seven males with a clinical diagnosis of IP according to the specific clinical criteria were included. Patient characteristics and molecular diagnosis results are shown in Table 1.
