Congenital Dermal Melanocytosis (Mongolian Spot) Clinical Presentation
- Author: Abdul-Ghani Kibbi, MD; Chief Editor: Dirk M Elston, MD more...
In Mongolian spot, an asymptomatic bluish discoloration overlying the sacrococcygeal area is present at birth.
Mongolian spots consist of blue-gray macular pigmentation. The distinctive skin discoloration is due to the deep placement of the pigment in the dermis, which imparts a bluish tone to the skin from the Tyndall effect of scattered light (see the image below).
Typically, it is a few centimeters in diameter, although much larger lesions also can occur. Lesions may be solitary or numerous. Most commonly, Mongolian spot involves the lumbosacral area, but the buttocks, flanks, and shoulders may be affected in extensive lesions. Noteworthy is that in Gupta’s and Thappa’s study, the majority of Mongolian spots were in the sacral area, blue-green or dark blue, smaller than 5 cm, and irregularly shaped. The lower extremity, upper back, upper extremity, groin, shoulder, and chest were other locations, in decreasing order of frequency.
Generalized Mongolian spots involving large areas covering the entire posterior or anterior trunk and the extremities have been reported.
Several variants exist, as follows:
Persistent Mongolian spots are larger, have sharper margins, and persist for many years. 
Aberrant Mongolian spots involve unusual sites such as the face or extremities. [14, 15, 16, 17]
Persistent aberrant Mongolian spots also are referred to as macular-type blue nevi.
Superimposed Mongolian spots, in which a darker Mongolian spot overlies a lighter one, have been described. 
Mongolian spots have been associated with cleft lip, spinal meningeal tumor, melanoma, phakomatosis pigmentovascularis types 2 and 5,[21, 22, 23, 24, 25, 26] and Sjögren-Larsson syndrome (one case report). A few cases of extensive Mongolian spots have been reported with inborn errors of metabolism, the most common being Hurler syndrome, followed by GM1 gangliosidosis type 1, Niemann-Pick disease, Hunter syndrome, , mannosidosis, and Wolf-Hirschhorn syndrome. In such cases, the Mongolian spots are likely to persist/progress rather than resolve.
A case report described a 15-month-old Azerbaijani girl with extensive, presumably systemized, Mongolian spots over her neck, back, shoulder, buttocks, and limbs, without facial involvement except for bilateral sclerae and choroidal areas.
A unique case of phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus, and cutis marmorata telangiectatica congenita has been described and may represent a new variant of phacomatosis pigmentovascularis.
Mongolian spot is a hereditary developmental condition caused by entrapment of melanocytes in the dermis during their migration from the neural crest into the epidermis.
It was discovered in extensive dermal melanocytosis associated with phakomatosis pigmentovascularis that activating mutations in GNA11 and GNAQ, genes that encode Gα subunits of heterotrimeric G proteins, occur, indicating this condition belongs to the group of mosaic heterotrimeric G-protein disorders.
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