Neurologic Manifestations of Incontinentia Pigmenti Workup

Updated: Dec 11, 2018
  • Author: Celia H Chang, MD; Chief Editor: Amy Kao, MD  more...
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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



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.