A comprehensive review of Mongolian spots with an update on atypical presentations

Yusuf Alimi, Joe Iwanaga, Marios Loukas, Rod J. Oskouian, Elias Rizk, W. Jerry Oakes, R. Shane Tubbs

Research output: Contribution to journalReview articlepeer-review

5 Scopus citations


Purpose: Mongolian spots (MS) are grayish-blue macules that typically present in the lumbosacral and gluteal regions of newborns. They are mostly benign and tend to resolve with age. This review brings to light recent findings and disorders associated MS. Methods: In this paper, we review the literature, highlight recent cases and disorders associated with MS, and emphasize how newborns presenting with atypical MS should undergo appropriate screening. Results: Atypical MS on other body parts are more likely to persist and might be an indication for further screening. Recent studies have shown persistent and extensive MS to be associated with various genetic disorders such as lysosomal storage diseases (LSDs) and phakomatosis pigmentovascularis. Conclusion: Physicians should be aware of atypical MS and related conditions in order to further assess these patients for risk of any underlying genetic disorders.

Original languageEnglish (US)
Pages (from-to)2371-2376
Number of pages6
JournalChild's Nervous System
Issue number12
StatePublished - Dec 1 2018

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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