A case of incontinentia pigmenti reactivation after 12-month immunizations

IP: incontinentia pigmenti NFkB: nuclear factor kB TNF: tumor necrosis factor INTRODUCTION Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is an X-linked dominant genodermatosis that can have several cutaneous, dental, skeletal, neurologic, and ocular manifestations, including retinal detachment, seizures, paralysis, developmental delay, hair loss, and abnormal dentition. Lethal for affected males in utero, IP presents overwhelmingly in females as a result of mutant X chromosome inactivation. Lyonization of the X chromosome is what contributes to the reticular or whorled vesiculobullous pattern pathognomonic for IP. Eighty percent of IP patients carry mutations in the NEMO gene, which codes for nuclear factor kB (NFkB) essential modulator. NFkB is crucial for the regulation of tumor necrosis factor (TNF)-induced apoptosis. Reactivation is thought to occur when specific triggers (possibly infection, fevers, or vaccinations) reactivate pathways in residual mutant cells.