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Congenital Dermal Melanocytosis (Mongolian Spot) Clinical Presentation

  • Author: Abdul-Ghani Kibbi, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: May 23, 2016
 

History

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

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Physical

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.[10]

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. [13]
  • 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. [18]

Mongolian spots have been associated with cleft lip,[19] spinal meningeal tumor, melanoma,[20] phakomatosis pigmentovascularis types 2 and 5,[21, 22, 23, 24, 25, 26] and Sjögren-Larsson syndrome (one case report).[27] A few cases of extensive Mongolian spots have been reported with inborn errors of metabolism, the most common being Hurler syndrome,[28] followed by GM1 gangliosidosis type 1, Niemann-Pick disease, Hunter syndrome,[29] , mannosidosis,[30] and Wolf-Hirschhorn syndrome.[31] 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.[32]

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.[33]

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Causes

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.[34]

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Contributor Information and Disclosures
Author

Abdul-Ghani Kibbi, MD Professor and Chair, Department of Dermatology, American University of Beirut Medical Center, Lebanon

Disclosure: Nothing to disclose.

Coauthor(s)

Christina M Bergqvist, MD Resident Physician, Department of Dermatology, American University of Beirut Medical Center

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Edward F Chan, MD Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania School of Medicine

Edward F Chan, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Ponciano D Cruz, Jr, MD Professor and Vice-Chair, Paul R Bergstresser Chair, Department of Dermatology, University of Texas Southwestern Medical Center

Ponciano D Cruz, Jr, MD is a member of the following medical societies: Texas Medical Association

Disclosure: Received consulting fee from RCTS for independent contractor; Received honoraria from Mary Kay Cosmetics for consulting; Received grant/research funds from Galderma for principal investigator.

Zeina Tannous, MD Associate Professor and Chair, Lebanese American University; Chief of Dermatology, University Medical Center, Rizk Hospital, Lebanon; Visiting Associate Professor in Dermatology, Harvard Medical School; Clinical Associate in Dermatology, Massachusetts General Hospital

Zeina Tannous, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Mohs Surgery, American Society for Dermatologic Surgery, American Society for Laser Medicine and Surgery, International Society of Cosmetic and Laser Surgeons, International Academy of Cosmetic Dermatology, Lebanese Dermatological Society, Lebanese Order of Physicians

Disclosure: Nothing to disclose.

Mazen Kurban, MD Staff Physician, Department of Dermatology, American University of Beirut Medical Center

Mazen Kurban, MD is a member of the following medical societies: Alpha Omega Alpha

Disclosure: Nothing to disclose.

Ruba Faik Bahhady, MD Senior Specialist, Department of Dermatology, American University of Beirut Medical Center

Disclosure: Nothing to disclose.

Dana I Harb, MD Resident Physician, Department of Dermatology, American University of Beirut Medical Center

Disclosure: Nothing to disclose.

References
  1. Gupta D, Thappa DM. Mongolian spots: How important are they?. World J Clin Cases. 2013 Nov 16. 1 (8):230-2. [Medline].

  2. Monteagudo B, Labandeira J, León-Muiños E, Carballeira I, Corrales A, Cabanillas M. [Prevalence of birthmarks and transient skin lesions in 1,000 Spanish newborns]. Actas Dermosifiliogr. 2011 May. 102(4):264-9. [Medline].

  3. Kanada KN, Merin MR, Munden A, Friedlander SF. A prospective study of cutaneous findings in newborns in the United States: correlation with race, ethnicity, and gestational status using updated classification and nomenclature. J Pediatr. 2012 Aug. 161(2):240-5. [Medline].

  4. Cordova A. The Mongolian spot: a study of ethnic differences and a literature review. Clin Pediatr (Phila). 1981 Nov. 20(11):714-9. [Medline].

  5. Reza AM, Farahnaz GZ, Hamideh S, Alinaghi SA, Saeed Z, Mostafa H. Incidence of Mongolian spots and its common sites at two university hospitals in Tehran, Iran. Pediatr Dermatol. 2010 Jul-Aug. 27(4):397-8. [Medline].

  6. Zagne V, Fernandes NC. Dermatoses in the first 72 h of life: A clinical and statistical survey. Indian J Dermatol Venereol Leprol. 2011 Jul-Aug. 77(4):470-6. [Medline].

  7. Bilgili SG, Akdeniz N, Karadag AS, Akbayram S, Calka O, Ozkol HU. Mucocutaneous disorders in children with down syndrome: case-controlled study. Genet Couns. 2011. 22(4):385-92. [Medline].

  8. Franceschini D, Dinulos JG. Dermal melanocytosis and associated disorders. Curr Opin Pediatr. 2015 Aug. 27 (4):480-5. [Medline].

  9. Shirakawa M, Ozawa T, Ohasi N, Ishii M, Harada T. Comparison of regional efficacy and complications in the treatment of aberrant Mongolian spots with the Q-switched ruby laser. J Cosmet Laser Ther. 2010 Jun. 12(3):138-42. [Medline].

  10. Gupta D, Thappa DM. Mongolian spots--a prospective study. Pediatr Dermatol. 2013 Nov-Dec. 30 (6):683-8. [Medline].

  11. Uehara M, Hatano Y, Kato A, Shimizu F, Sato S, Kashima K. Two cases of congenital aplasia cutis with dermal melanocytosis. J Dermatol. 2012 May. 39(5):501-3. [Medline].

  12. Fujita Y, Yokota K, Akiyama M, Machino S, Inokuma D, Arita K. Two cases of atypical membranous aplasia cutis with hair collar sign: one with dermal melanocytosis, and the other with naevus flammeus. Clin Exp Dermatol. 2005 Sep. 30(5):497-9. [Medline].

  13. Leung AK, Kao CP, Leung AA. Persistent Mongolian spots in Chinese adults. Int J Dermatol. 2005 Jan. 44(1):43-5. [Medline].

  14. Leung AK, Kao CP. Extensive mongolian spots with involvement of the scalp. Pediatr Dermatol. 1999 Sep-Oct. 16(5):371-2. [Medline].

  15. Leung AK, Kao CP, Lee TK. Mongolian spots with involvement of the temporal area. Int J Dermatol. 2001 Apr. 40(4):288-9. [Medline].

  16. Afsar FS, Seremet Uysal S. Unusual localization of mongolian spot in a Caucasian infant. Minerva Pediatr. 2015 Nov 4. [Medline].

  17. Ma H, Liao M, Qiu S, Luo R, Lu R, Lu C. The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis. An Bras Dermatol. 2015 Jun. 90 (3 Suppl 1):10-2. [Medline].

  18. Leung AK, Robson WL. Superimposed Mongolian spots. Pediatr Dermatol. 2008 Mar-Apr. 25(2):233-5. [Medline].

  19. Igawa HH, Ohura T, Sugihara T, Ishikawa T, Kumakiri M. Cleft lip mongolian spot: mongolian spot associated with cleft lip. J Am Acad Dermatol. 1994 Apr. 30(4):566-9. [Medline].

  20. Mosher DB, Fitzpatrick TB, Yoshiaki H, et al. Disorders of pigmentation. Fitzpatrick TB, ed. Dermatology in General Medicine. New York, NY: McGraw-Hill; 1993. Vol 1: 903-95.

  21. Achtelik W, Tronnier M, Wolff HH. [Combined naevus flammeus and naevus fuscocoeruleus: phacomatosis pigmentovascularis type IIa]. Hautarzt. 1997 Sep. 48(9):653-6. [Medline].

  22. Huang C, Lee P. Phakomatosis pigmentovascularis IIb with renal anomaly. Clin Exp Dermatol. 2000 Jan. 25(1):51-4. [Medline].

  23. Kawara S, Takata M, Hirone T, Tomita K, Hamaoka H. [A new variety of neurocutaneous melanosis: benign leptomeningeal melanocytoma associated with extensive Mongolian spot on the back]. Nippon Hifuka Gakkai Zasshi. 1989 Apr. 99(5):561-6. [Medline].

  24. Torrelo A, Zambrano A, Happle R. Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). J Eur Acad Dermatol Venereol. 2006 Mar. 20(3):308-10. [Medline].

  25. Uysal G, Guven A, Ozhan B, Ozturk MH, Mutluay AH, Tulunay O. Phakomatosis pigmentovascularis with Sturge-Weber syndrome: a case report. J Dermatol. 2000 Jul. 27(7):467-70. [Medline].

  26. Van Gysel D, Oranje AP, Stroink H, Simonsz HJ. Phakomatosis pigmentovascularis. Pediatr Dermatol. 1996 Jan-Feb. 13(1):33-5. [Medline].

  27. Inamadar AC, Palit A. Persistent, aberrant Mongolian spots in Sjogren-Larsson syndrome. Pediatr Dermatol. 2007 Jan-Feb. 24(1):98-9. [Medline].

  28. Rybojad M, Moraillon I, Ogier de Baulny H, Prigent F, Morel P. [Extensive Mongolian spot related to Hurler disease]. Ann Dermatol Venereol. 1999 Jan. 126(1):35-7. [Medline].

  29. Ochiai T, Ito K, Okada T, Chin M, Shichino H, Mugishima H. Significance of extensive Mongolian spots in Hunter's syndrome. Br J Dermatol. 2003 Jun. 148(6):1173-8. [Medline].

  30. Snow TM. Mongolian spots in the newborn: do they mean anything?. Neonatal Netw. 2005 Jan-Feb. 24(1):31-3. [Medline].

  31. Ziegler A, Guichet A, Pinson L, Barth M, Levade T, Bonneau D, et al. Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome). Clin Dysmorphol. 2014 Jul. 23 (3):109-10. [Medline].

  32. Köse O, Huseynov S, Demiriz M. Giant Mongolian macules with bilateral ocular involvement: case report and review. Dermatology. 2012. 224(2):126-9. [Medline].

  33. Ma H, Liao M, Qiu S, Luo R, Lu R, Lu C. The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis. An Bras Dermatol. 2015 May-Jun. 90 (3 Suppl 1):10-2. [Medline].

  34. Thomas AC, Zeng Z, Rivière JB, O'Shaughnessy R, Al-Olabi L, St-Onge J, et al. Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. J Invest Dermatol. 2016 Apr. 136 (4):770-8. [Medline].

  35. AlJasser M, Al-Khenaizan S. Cutaneous mimickers of child abuse: a primer for pediatricians. Eur J Pediatr. 2008 Nov. 167(11):1221-30. [Medline].

  36. Pessach Y, Goldberg I, Sprecher E, Gat A, Harel A. An unusual presentation of congenital dermal melanocytosis fitting the rare diagnosis of dermal melanocyte hamartoma. Cutis. 2014 Oct. 94 (4):E16-7. [Medline].

  37. Ashrafi MR, Shabanian R, Mohammadi M, Kavusi S. Extensive Mongolian spots: a clinical sign merits special attention. Pediatr Neurol. 2006 Feb. 34(2):143-5. [Medline].

  38. Kagami S, Asahina A, Watanabe R, et al. Laser treatment of 26 Japanese patients with Mongolian spots. Dermatol Surg. 2008 Dec. 34(12):1689-94. [Medline].

  39. Shirakawa M, Ozawa T, Tateishi C, Fujii N, Sakahara D, Ishii M. Intense pulsed light therapy for aberrant Mongolian spots. Osaka City Med J. 2012 Dec. 58 (2):59-65. [Medline].

 
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