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.
CITATION STYLE
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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