A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations

The article describes a rare case of a female patient with a complex phenotype caused by two genetically distinct diseases. Incontinentia Pigmenti (IP) is an X-linked disorder caused by mutations in the IKBKG/NEMO gene, characterized by skin and neuroectodermal abnormalities. Syndromic intellectual disability (MRFACD) is an autosomal dominant disease caused by mutations in the MED13L gene, characterized by neurological disorders including intellectual disability, hypotonia, and speech delay. The patient was diagnosed with both conditions simultaneously - mosaicism in the IKBKG gene (NEMOdelta410) and a deleterious variant in the MED13L gene (NM015335.4: c.17081709del). This genetic combination has not been previously reported in the literature and emphasizes the importance of examining multiple genetic alterations, including postzygotic mosaicism, when explaining complex clinical presentations.