Incontinentia pigmenti in a term neonate: an atypical presentation

Abstract

: Incontinentia pigmenti is a rare X-linked dominant multi-system disorder that is clinically suspected, based on the characteristic evolution of skin lesions through four stages. We describe a term neonate who presented at birth with pleomorphic skin rashes, including linear hyperpigmented hyperkeratotic lesions and erythematous vesicles, and then developed seizures. She was later histologically and genetically confirmed as a case of incontinentia pigmenti. The simultaneous presence of three stages of skin lesions in the neonatal period is an atypical presentation, which has not been previously well described.