Extensive Mongolian Spots: A Clinical Sign Merits Special Attention

Prevalence of Blue Spot among Mongolian Newborn Infants

“…The size of the Mongolian spot square was strongly and directly correlated with the body surface area of the infant (p=0.0001) (Figure 2 Several studies on prevalence of Mongolian spot have been conducted worldwide. The reported prevalence of the Mongolian spot variesas follows: East Africa (95.0%), Native Americans (90.0%), Korean (97.1%), China (86.3), Japan (81.5%), Nigeria (74.8%), Iran (71.3%), India (60.2-62.2%), Spain (60.0%), Taiwan (61.6%), Brazil (60.0%), Hungary (22.6%), Australia (25.5%), Italy (2-5%), Arab (8-10%), Azerbaijan (10%), and Turkey (10-12%) [2,[5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20].…”

“…Studies of "Mongolian spot" prevalence have been conducted in many countries, namely in USA (Native Americans), Korea, China, Japan, Nigeria, Iran, India, Taiwan, Brazil, Australia, Italy, Arab, Turkey [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]. Those studies determined the specific prevalence among newborns and general population.…”

Manchas Mongólicas Múltiplas e Sobrepostas numa Criança Caucasiana

“…Although traditionally regarded as benign, some publications suggested that extensive and multiple MS present at aberrant locations and persistent beyond early childhood may co-exist with inborn errors of metabolism. [2][3][4][5] The most common lysosomal storage disorders associated with MS are mucopolysaccharidosis type I (Hurler's disease) and GM1-gangliosidosis, and in a few cases mucopolysaccharidosis type 2 (Hunter's syndrome), mucolipidosis, Niemann-Pick disease and mannosidosis. [2][3][4][5][6][7] The pathogenic mechanisms behind this association are not completely understood but metabolites accumulated in inborn errors of metabolism seem to have an important role: they bind to a tyrosine kinase-type receptor and result in an abnormal activity of nerve growth factor, an important signal for transdermal melanocyte migration.…”

“…[2][3][4][5] The most common lysosomal storage disorders associated with MS are mucopolysaccharidosis type I (Hurler's disease) and GM1-gangliosidosis, and in a few cases mucopolysaccharidosis type 2 (Hunter's syndrome), mucolipidosis, Niemann-Pick disease and mannosidosis. [2][3][4][5][6][7] The pathogenic mechanisms behind this association are not completely understood but metabolites accumulated in inborn errors of metabolism seem to have an important role: they bind to a tyrosine kinase-type receptor and result in an abnormal activity of nerve growth factor, an important signal for transdermal melanocyte migration. 2,4 The association of persistent or aberrant MS with vascular birthmarks like aberrant nevus flammeus and pigmentary abnormalities in phakomatosis pigmentovascularis, or in some cases of Sturge-Weber syndrome, Klippel-Trenaunay syndrome and cutis marmorata telangiectatica congenita, is better established.…”

“…[2][3][4][5][6][7] The pathogenic mechanisms behind this association are not completely understood but metabolites accumulated in inborn errors of metabolism seem to have an important role: they bind to a tyrosine kinase-type receptor and result in an abnormal activity of nerve growth factor, an important signal for transdermal melanocyte migration. 2,4 The association of persistent or aberrant MS with vascular birthmarks like aberrant nevus flammeus and pigmentary abnormalities in phakomatosis pigmentovascularis, or in some cases of Sturge-Weber syndrome, Klippel-Trenaunay syndrome and cutis marmorata telangiectatica congenita, is better established. [8][9][10] In these situations, apart from the MS, there are other physical signs which raise the suspicion of the existence of a congenital disorder and a clear need of additional investigations.…”