Hypomelanosis of Ito Workup

Updated: May 07, 2018
  • Author: Manuel Valdebran, MD; Chief Editor: Dirk M Elston, MD  more...
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Laboratory Studies

Only history taking and physical examination with special attention to the neurologic and ophthalmologic findings are necessary to detect abnormalities associated with hypomelanosis of Ito.

If genetic and/or chromosomal testing are considered, these should be coordinated with someone who is conducting research on this disease.


Imaging Studies

Perform imaging only as indicated by the features of the history and physical examination.

CT and/or MRI of the brain should only be performed in those with neurologic symptoms.

Skeletal radiography should be performed in hypomelanosis of Ito patients with apparent bony abnormalities.


Other Tests

Perform EEG in hypomelanosis of Ito patients with seizure disorders.

Perform electromyelography (EMG) in those with hypotonia.


Histologic Findings

Histological findings include a decreased amount of melanin present in keratinocytes and melanocytes along the basal layer of the epidermis. Special stains such as Fontana-Masson and/or immunostains such as SOX 10, MITF, or Melan A may be used to evaluate these changes. Ultrastructurally, there is a reduction in melanosomes, both in melanocytes and keratinocytes. [13, 14]