Incontinentia Pigmenti-A rare multisystem disorder

Incontinentia Pigmenti (IP) also called Bloch-Sulzberger syndrome is a rare X linked genodermatosis, affecting the females and lethal in males. The gene affected is NEMO or IKK gamma gene located on Xq28. It is a multisystem disorder affecting ectoderm-derived structures, including skin, teeth, hair, nails, eyes and central nervous systems(CNS). This 2 year old girl presented with skin lesions, seizures, severe developmental delay and mental retardation, typical of IP. She had lines of Blaschko noticed at birth followed by Ophthalmic, dental and hair abnormalities. She was treated conservatively with antiepileptic medications, dental and dermatology consultation and rehabilitation. Keywords: Incontinentia Pigmenti, X Linked genetic disorder.