A 52-year-old woman presented with a 10-year-history of memory loss and executive dysfunction. Examination disclosed hypopigmented whorls and linear streaks following the lines of Blaschko in different body segments (Figure 1), typical of Hypomelanosis of Ito (HI). Brain MRI showed marked enlarged Virchow-Robin spaces (Figure 2).
(A and B) Multiple hypopigmented linear streaks following the lines of Blaschko in the posterior surface of the left lower limb and left lumbar region (white arrows). (C) Whole-body representation of the posterior surface disclosing the skin pattern of lines of Blaschko and the most prominent hypopigmented streaks in our patient (filled black areas).
Brain MRI disclosing marked enlarged Virchow-Robin spaces in axial (A) and sagittal (B) unenhanced T1-weighted images and in coronal (C) and axial (D) enhanced T1-weighted images. Axial T2-weighted (E) and FLAIR (F) images shows enlarged Virchow-Robin spaces with mild surrounding gliosis depicted as T2 and FLAIR hyperintense foci.
HI or incontinentia pigmenti achromians (MIM#300337) represents a heterogeneous group of
early-onset sporadic neurocutaneous disorders, resulting from chromosomal mosaicism11 Ruggieri M, Pavone L. Hypomelanosis of Ito: clinical syndrome or just
phenotype? J Child Neurol. 2000;15(10):635-44.
http://dx.doi.org/10.1177/088307380001501001
https://doi.org/10.1177/0883073800015010...
. Neurological manifestation may include:
cognitive impairment, epilepsy, spasticity, cerebellar ataxia and microcephaly22 Steiner J, Adamsbaum C, Desguerres I, Lalande G, Raynaud R, Ponsot G et al.
Hypomelanosis of Ito and brain abnormalities: MRI findings and literature review. Pediatr
Radiol 1996;26(11):763-8. http://dx.doi.org/10.1007/BF01396196
https://doi.org/10.1007/BF01396196...
. Adult-onset neurological symptoms may
occur11 Ruggieri M, Pavone L. Hypomelanosis of Ito: clinical syndrome or just
phenotype? J Child Neurol. 2000;15(10):635-44.
http://dx.doi.org/10.1177/088307380001501001
https://doi.org/10.1177/0883073800015010...
. MRI abnormalities include:
white-matter lesions, multiple cerebral infarcts, hypoplasia of the corpus callosum, and
enlarged Virchow-Robin spaces22 Steiner J, Adamsbaum C, Desguerres I, Lalande G, Raynaud R, Ponsot G et al.
Hypomelanosis of Ito and brain abnormalities: MRI findings and literature review. Pediatr
Radiol 1996;26(11):763-8. http://dx.doi.org/10.1007/BF01396196
https://doi.org/10.1007/BF01396196...
.
References
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1Ruggieri M, Pavone L. Hypomelanosis of Ito: clinical syndrome or just phenotype? J Child Neurol. 2000;15(10):635-44. http://dx.doi.org/10.1177/088307380001501001
» https://doi.org/10.1177/088307380001501001 -
2Steiner J, Adamsbaum C, Desguerres I, Lalande G, Raynaud R, Ponsot G et al. Hypomelanosis of Ito and brain abnormalities: MRI findings and literature review. Pediatr Radiol 1996;26(11):763-8. http://dx.doi.org/10.1007/BF01396196
» https://doi.org/10.1007/BF01396196
Publication Dates
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Publication in this collection
Apr 2015
History
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Received
06 Dec 2014 -
Received
22 Dec 2014 -
Accepted
12 Jan 2015