Incontinence pigmenti: A rare genetic disease that affects the skin and more

Abstract

Incontinentia Pigmenti (IP) is a rare X-linked genetic disorder primarily affecting girls, while it is typically lethal in males. The disease is characterized by variable clinical manifestations affecting the skin, hair, nails, teeth, and central nervous system. It is associated with mutations in the NEMO gene, which impact the function of the NF-kappa-B transcription factor. There is no specific cure, and treatment focuses on symptom and complication management. Early diagnosis is crucial for proper management.