Copyright ©2013 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Clin Cases. Nov 16, 2013; 1(8): 230-232
Published online Nov 16, 2013. doi: 10.12998/wjcc.v1.i8.230
Mongolian spots: How important are they?
Divya Gupta, Devinder Mohan Thappa
Divya Gupta, Devinder Mohan Thappa, Department of Skin and STD, JIPMER, Puducherry 605006, India
Author contributions: Gupta D collected the articles and wrote the manuscript; Thappa DM initiated the idea for this article, and in addition, edited, revised and provided crucial critical inputs to the manuscript.
Correspondence to: Dr. Devinder Mohan Thappa, MD, DHA, MNAMS, Professor, former Head, Department of Skin and STD, JIPMER, Dhanvantri Nagar, Gorimedu, Puducherry 605006, India. dmthappa@gmail.com
Telephone: +91-413-2271250
Received: July 15, 2013
Revised: October 7, 2013
Accepted: November 2, 2013
Published online: November 16, 2013

Mongolian spots (MS) are congenital birthmarks seen most commonly over the lumbosacral area. They are bluish-green to black in color and oval to irregular in shape. They are most commonly found in individuals of African or Asian ethnic background. Although these lesions resolve by one to two years of age, widespread, extrasacral and dark colored MS sometimes persist into adulthood. Aberrant MS over occiput, temple, mandibular area, shoulders and limbs may be confused with other dermal melanocytoses and bruises secondary to child abuse, thus necessitating documentation at birth. Although traditionally believed to be benign in nature, they have now been shown to co-exist with inborn errors of metabolism, most commonly GM1 gangliosidosis and mucopolysaccharidosis type I (Hurler’s disease), followed by mucopolysaccharidosis type II (Hunter’s syndrome), mucolipidosis, Niemann-Pick disease and mannosidosis. They have also been seen to co-exist with various vascular or other pigmented birthmarks like café-au-lait macules. Co-existing Mongolian spots and vascular birthmarks like nevus flammeus, nevus anemicus or nevus spilus is termed as phakomatosis pigmentovascularis. This review focuses on the important associations of Mongolian spots and stresses upon the importance of screening babies with extensive MS.

Keywords: Mongolian spot, Inborn errors of metabolism

Core tip: Though earlier considered to be benign birthmarks, it has been shown now that Mongolian spots (MS) are often associated with co-existent anomalies like inherited disorders of metabolism, vascular birthmarks and occult spinal dysraphism. Babies with extensive MS should be screened for the same.