Incontinentia pigmenti (IP; OMIM#308300) is a rare multisystem genomic disorder (0.7/100.000), X-linked and lethal in males, affecting the skin and other ectodermal tissues including the teeth, hair, nails, eyes, and Central Nervous System (CNS) in females. Beside the skin lesions that are always present in IP, other tissues can be differently affected and the most severe effect of the disease are those related to neurological and/or ocular impairment. In most patients, cutaneous manifestations are present at birth or occur within the first 2 weeks of life. The cutaneous manifestations usually appear in a characteristic, chronologic sequence. Other systemic manifestations, including ocular defects, CNS abnormalities, and dental abnormalities, may not be recognized until infancy or early childhood. Investigations and diagnostic evaulation are necessary for the phenotypic characterization of IP patient. Each tissue survey is related to early identification of damage due to pathology that if early detected can be treated.

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