Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report

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Abstract

Background: Incontinentia pigmenti (IP) is an X-liked dominant genodermatosis caused by mutations of the IKBKG/NEMO gene. IP is mostly lethal in males in utero, and only very rare male cases with a somatic mosaic mutation or a 47,XXY karyotype have been reported. Case presentation: We here report a case of an IKBKG gene deletion in a female infant presenting with a few blisters and erythema in her upper arms at birth. MLPA analysis revealed a rare 94 kb deletion in this patient, encompassing the IKBKG gene and IKBKGP pseudogene. PCR analysis indicated the presence of Alu elements at both ends of the deletion, suggesting non-allelic homologous recombination as an underlying mechanism. Notably, a low-level mosaic deletion was identified in her father’s peripheral blood leukocytes by PCR, suggesting a rare father-to-daughter transmission of IP. Conclusion: In family studies for an apparently sporadic IP case, parental analysis that includes the father is recommended due to the possibility of male mosaicism.

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Kawai, M., Sugimoto, A., Ishihara, Y., Kato, T., & Kurahashi, H. (2022). Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report. BMC Pediatrics, 22(1). https://doi.org/10.1186/s12887-022-03444-6

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