eMedicine Specialties > Dermatology > Diseases of Pigmentation

Congenital Dermal Melanocytosis (Mongolian Spot)

Author: Abdul-Ghani Kibbi, MD, Chairman and Professor, Department of Dermatology, American University of Beirut Medical Center, Lebanon
Coauthor(s): Ruba Faik Bahhady, MD, Resident Physician, Department of Dermatology, American University of Beirut Medical Center; Zeina Tannous, MD, Consulting Staff, Department of Dermatology, Massachusetts General Hospital, Harvard Medical School; Mazen Kurban, MD, Staff Physician, Department of Dermatology, American University of Beirut Medical Center
Contributor Information and Disclosures

Updated: Oct 7, 2009

Introduction

Background

Mongolian spot refers to a macular blue-gray pigmentation usually on the sacral area of healthy infants. Mongolian spot is usually present at birth or appears within the first weeks of life. Mongolian spot typically disappears spontaneously within 4 years but can persist for life.

Pathophysiology

Mongolian spot is a congenital, developmental condition exclusively involving the skin. Mongolian spot results from entrapment of melanocytes in the dermis during their migration from the neural crest into the epidermis. This migration is regulated by exogenous peptide growth factors that work by the activation of tyrosine kinase receptors. It is postulated that accumulated metabolites such as GM1 and heparan sulfate bind to this tyrosine kinase receptor and lead to severe neurologic manifestations and aberrant neural crest migration.

Frequency

United States

More than 90% of Native Americans, 80% of Asians, and 70% of Hispanics have Mongolian spots; less than 10% of whites have Mongolian spots.

International

The prevalence of Mongolian spots varies among different ethnic groups. This condition is most common among Asians. Mongolian spot has also been reported in 80% of East African children, in 46% of Hispanic children, and in 1-9% of white children.1

Mortality/Morbidity

Mongolian spot is not associated with mortality or morbidity.

Race

Mongolian spots are observed in more than 90% of infants of the Mongoloid race (ie, East Asians, Indonesians, Polynesians, Micronesians, Amerindians, Eskimos).

Sex

No sex predilection is reported for Mongolian spot.

Age

Mongolian spot is usually present at birth, but it can also appear within the first weeks of the neonatal period.

Clinical

History

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

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 Media file 1).
Multiple Mongolian spots in a child.

Multiple Mongolian spots in a child.

[ CLOSE WINDOW ]
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.
  • 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.2
    • Aberrant Mongolian spots involve unusual sites such as the face or extremities.3,4
    • 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.5
  • Mongolian spots have been associated with cleft lip,6 spinal meningeal tumor, melanoma,7 phakomatosis pigmentovascularis types 2 and 5,8,9,10,11,12,13 and Sjögren-Larsson syndrome (one case report).14 A few cases of extensive Mongolian spots have been reported with inborn errors of metabolism, the most common being Hurler syndrome,15 followed by gangliosidosis type 1, Niemann-Pick disease, Hunter syndrome,16 and mannosidosis.17 In such cases, the Mongolian spots are likely to persist rather than resolve.

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.

More on Congenital Dermal Melanocytosis (Mongolian Spot)

Overview: Congenital Dermal Melanocytosis (Mongolian Spot)
Differential Diagnoses & Workup: Congenital Dermal Melanocytosis (Mongolian Spot)
Treatment & Medication: Congenital Dermal Melanocytosis (Mongolian Spot)
Follow-up: Congenital Dermal Melanocytosis (Mongolian Spot)
Multimedia: Congenital Dermal Melanocytosis (Mongolian Spot)
References
[ CLOSE WINDOW ]

References

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

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

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

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

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

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

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

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

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

  10. 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. Apr 1989;99(5):561-6. [Medline].

  11. 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. Mar 2006;20(3):308-10. [Medline].

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

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

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

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

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

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

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

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

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

  21. Ahn JS, Kim SD, Hwang JH, Youn SW, Kim KH, Park KC. Halo-like disappearance of mongolian spot combined with café au lait spot. Pediatr Dermatol. Jan-Feb 1998;15(1):70-1. [Medline].

  22. Levene A. Disseminated dermal melanocytosis terminating in melanoma. A human condition resembling equine melanotic disease. Br J Dermatol. Aug 1979;101(2):197-205. [Medline].

  23. Rivers JK, Frederiksen PC, Dibdin C. A prevalence survey of dermatoses in the Australian neonate. J Am Acad Dermatol. Jul 1990;23(1):77-81. [Medline].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

Mongolian spot, congenital dermal melanocytosis

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Abdul-Ghani Kibbi, MD, Chairman and Professor, Department of Dermatology, American University of Beirut Medical Center, Lebanon
Disclosure: none None None

Coauthor(s)

Ruba Faik Bahhady, MD, Resident Physician, Department of Dermatology, American University of Beirut Medical Center
Disclosure: Nothing to disclose.

Zeina Tannous, MD, Consulting Staff, Department of Dermatology, Massachusetts General Hospital, Harvard Medical School
Zeina Tannous, MD is a member of the following medical societies: Alpha Omega Alpha
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.

Medical Editor

Ponciano D Cruz Jr, MD, Vice-Chair, JB Shelmire Professor, 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: RCTS Consulting fee Independent contractor; Mary Kay Cosmetics Consulting fee Independent contractor; Galderma Grant/research funds Other

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Managing Editor

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, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

CME Editor

Catherine M Quirk, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania
Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.