Laboratory Studies

See the list below:

Complete blood count (CBC) frequently shows eosinophilia in about one third of males.
Genetic testing for NEMO mutations - Southern blot or direct sequencing of exons (see GeneTests)

Imaging Studies

CT scan or MRI of the brain should be performed if the neurologic examination or the child's development are abnormal or if vascular retinal findings are present. CNS lesions also correlate with scalp lesions. CNS findings are usually present at birth or within the first few months of life. CT and MRI findings may include the following:

Atrophy
Hypoplasia and partial agenesis of corpus callosum
Gray matter dysplasia
Periventricular white matter disease (A transient white matter lesion on MRI has been reported.)
Strokes or focal encephalomalacia; lesions extend radially and can involve structures from the ependyma to the cortex. The lesions do not correspond to usual vascular territories.
Diffuse cortical necrosis

Fluorescein angiography is helpful in defining the retinal vascular abnormalities.

Other Tests

DNA testing

Procedures

Skin biopsy is used to confirm the diagnosis.

Histologic Findings

The 4 cutaneous stages are associated with the following histologic findings:

Stage 1 has eosinophilic spongiosis that is characterized by spongiotic dermatitis with eosinophils in an inflammatory reaction, vacuolated basal cells, and dyskeratotic cells.
Stage 2 has papillated epidermal hyperplasia that is characterized by dyskeratotic cells, eosinophils in the dermis and epidermis, hyperkeratosis, acanthosis, and vacuolated basal cells.
Stage 3 is the postinflammatory stage that is characterized by a thickened papillary dermis, many melanophages, deposits of melanin in the dermis, and vacuolar alteration of epidermal basal cell layer.
Stage 4 is the atrophic, hypopigmented stage that is characterized by increased melanin in the upper dermal layers, hyperkeratosis, acanthosis, atrophy, scarring, and an absence of skin appendages.

Treatment & Management

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Media Gallery

Incontinentia pigmenti. Linear streak of pigmentation and erythematous vesicles along the pattern of Blaschko lines on the left arm
Forearm vesicles with overlying granulation tissue characteristic of incontinentia pigmenti
Incontinentia pigmenti. The back and buttock region are covered with swirls and streaks of hyperpigmentation and purple discoloration with patches of vesicles, all along the lines of Blaschko.
Incontinentia pigmenti. Streaks of hyperpigmentation on the chest and proximal right arm
Diffuse cerebral infarcts and edema associated with incontinentia pigmenti