Cutis Verticis Gyrata Workup

Updated: Jun 01, 2022
  • Author: Malgorzata D Skibinska, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Imaging Studies

Perform magnetic resonance imaging (MRI) or computed tomography (CT) in cutis verticis gyrata presenting at birth or when associated with mental retardation and neurologic and/or ophthalmologic abnormalities to determine or exclude any structural brain abnormalities. [63, 64, 65] Some authors suggest a standard anteroposterior skull film with soft-tissue technique, which may be helpful for making the diagnosis in subtle cases.

In CT scanning, thickening of the skin and subcutaneous fat and irregularly distributed cutaneous folds can be observed. Changes, such as cortical-subcortical atrophy, a dilated ventricular system, abnormal brain calcifications, bone changes, or an intracranial tumor, were also demonstrated in patients with cutis verticis gyrata. In patients with acromegaly and cutis verticis gyrata, enlarged sellae with enhancing intrasellar masses were present. [5, 66, 67]

In MRI, severe abnormality of the occipital lobes, bilateral polymicrogyria, small frontal and anterior temporal lobes, parietal and occipital cortex atrophy, colpocephaly, hypoplastic splenium of the corpus callosum, and atrophy of the cerebellar cortex were described. [68, 69]

In essential primary cutis verticis gyrata, MRIs reveal thickened dermis and a slight increase in the volume of subcutaneous fat. [64, 70]