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 article

Abstract

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
Volume34
Issue number12
DOIs
StatePublished - Dec 1 2018

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Mongolian Spot
Inborn Genetic Diseases
Newborn Infant
Neurocutaneous Syndromes
Lysosomal Storage Diseases
Lumbosacral Region
Buttocks
Human Body
Physicians

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Alimi, Y., Iwanaga, J., Loukas, M., Oskouian, R. J., Rizk, E., Oakes, W. J., & Tubbs, R. S. (2018). A comprehensive review of Mongolian spots with an update on atypical presentations. Child's Nervous System, 34(12), 2371-2376. https://doi.org/10.1007/s00381-018-3929-0
Alimi, Yusuf ; Iwanaga, Joe ; Loukas, Marios ; Oskouian, Rod J. ; Rizk, Elias ; Oakes, W. Jerry ; Tubbs, R. Shane. / A comprehensive review of Mongolian spots with an update on atypical presentations. In: Child's Nervous System. 2018 ; Vol. 34, No. 12. pp. 2371-2376.
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Alimi, Y, Iwanaga, J, Loukas, M, Oskouian, RJ, Rizk, E, Oakes, WJ & Tubbs, RS 2018, 'A comprehensive review of Mongolian spots with an update on atypical presentations', Child's Nervous System, vol. 34, no. 12, pp. 2371-2376. https://doi.org/10.1007/s00381-018-3929-0

A comprehensive review of Mongolian spots with an update on atypical presentations. / Alimi, Yusuf; Iwanaga, Joe; Loukas, Marios; Oskouian, Rod J.; Rizk, Elias; Oakes, W. Jerry; Tubbs, R. Shane.

In: Child's Nervous System, Vol. 34, No. 12, 01.12.2018, p. 2371-2376.

Research output: Contribution to journalReview article

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T1 - A comprehensive review of Mongolian spots with an update on atypical presentations

AU - Alimi, Yusuf

AU - Iwanaga, Joe

AU - Loukas, Marios

AU - Oskouian, Rod J.

AU - Rizk, Elias

AU - Oakes, W. Jerry

AU - Tubbs, R. Shane

PY - 2018/12/1

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AB - 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.

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