Congenital Dermal Melanocytosis (Mongolian Spot) Clinical Presentation

Updated: Mar 22, 2019
  • Author: Abdul-Ghani Kibbi, MD; Chief Editor: Dirk M Elston, MD  more...
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Presentation

History

In Mongolian spot, an asymptomatic bluish discoloration overlying the sacrococcygeal area is present at birth.

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Physical Examination

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).

Multiple Mongolian spots in a child. Multiple Mongolian spots in a child.

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. [12]

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. [15]

  • Aberrant Mongolian spots involve unusual sites such as the face or extremities. [16, 17, 18, 19]

  • 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. [20]

Mongolian spots have been associated with cleft lip, [21] spinal meningeal tumor, melanoma, [22] phakomatosis pigmentovascularis types 2 and 5, [23, 24, 25, 26, 27, 28] and Sjögren-Larsson syndrome (one case report). [29] A few cases of extensive Mongolian spots have been reported with inborn errors of metabolism, the most common being Hurler syndrome, [30] followed by GM1 gangliosidosis type 1, [31, 32] Niemann-Pick disease, Hunter syndrome, [33, 34] mannosidosis, [35] Wolf-Hirschhorn syndrome, [36] and, very rarely with Sandhoff disease. [37] 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. [38]

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. [39, 40] Other additional sporadic cases of extensive Mongolian spots in association with various types of phacomatosis pigmentovascularis have been reported in the literature, the most recent of which is a 5‐year‐old girl whose phacomatosis pigmentovascularis was unclassifiable and represented a novel combination of a pigmented lesion accompanying capillary malformation. [41]

A halolike response has been described around a café-au-lait spot superimposed on Mongolian spot in an 8-month old infant with neurofibromatosis type I and in a 5-month-old baby, without any evidence of a genetic disorder or systemic disease. [42, 43]

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