Clinical Guidance

Incontinentia pigmenti (IP) is a disorder of the skin and its appendages, eye, and central nervous system (CNS) that occurs primarily in females and on occasion in males. The largest cohort of individuals with IP in whom the clinical and molecular diagnosis has been confirmed is reported in . Skin. See , , , and . IP manifests in stages that evolve sequentially. The onset and duration of each stage vary among individuals, and not all individuals experience all four stages. The skin abnormalities that define each stage occur along lines of embryonic and fetal skin development known as Blaschko lines . Blaschko lines correspond with cell migration or growth pathways that are established during embryogenesis. Like dermatomes, they are linear on the limbs and circumferential on the trunk.

Diagnostic Criteria

Suggestive Findings

Incontinentia pigmenti (IP) should be suspected in individuals with characteristic clinical findings of the skin, teeth, hair, nails, eyes, and CNS, and family history as detailed below.

Major criteria (skin lesions that occur in stages from infancy to adulthood)

Source: GeneReviews — "Incontinentia Pigmenti"

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with incontinentia pigmenti (IP), the following evaluations are recommended if they have not already been completed:

• Physical examination with particular emphasis on the skin, hair, nails, and neurologic system to establish the presence and extent of manifestations

Surveillance Guidelines

No schedule for eye examinations has been established, but the following has been suggested:

• Monthly until age three to four months

• Every three months between ages four months and one year

• Every six months between ages one and three years