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Dermatology > DISEASES OF PIGMENTATION
Mongolian Spot
Article Last Updated: Jan 25, 2007
AUTHOR AND EDITOR INFORMATION
Section 1 of 9  
Author: Abdul-Ghani Kibbi, MD, Chairman and Professor, Department of Dermatology, American University of Beirut Medical Center, Lebanon
Coauthor(s):
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
Editors: Ponciano D Cruz Jr, MD, Vice-Chair, JB Shelmire Professor, Department of Dermatology, University of Texas Southwestern Medical Center; David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Director, Division of Dermatology, Scott and White Clinic; Director Dermatology Residency Training Program, Scott and White Clinic; Edward F Chan, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University; Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Author and Editor Disclosure
Synonyms and related keywords:
congenital dermal melanocytosis
Background
Mongolian spot refers to a macular blue-gray pigmentation usually on the sacral area of healthy infants. It is usually present at birth or appears within the first weeks of life. It typically disappears spontaneously within 4 years but can persist for life.
Pathophysiology
The Mongolian spot is a congenital, developmental condition exclusively involving the skin. It 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. It also has been reported in 80% of East African children, in 46% of Hispanic children, and in 1-9% of white children.
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.
Age
Mongolian spot is usually present at birth, but it can also appear within the first weeks of the neonatal period.
History
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).
- Typically, it is a few centimeters in diameter, although much larger lesions also can occur. Lesions may be solitary or numerous.
- Most commonly, it 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.
- Aberrant Mongolian spots involve unusual sites such as the face or extremities.
- Persistent aberrant Mongolian spots also are referred to as macular-type blue nevi.
- Mongolian spots have been associated with cleft lip, spinal meningeal tumor, melanoma, and phakomatosis pigmentovascularis types 2 and 5. A few cases of extensive Mongolian spots have been reported with inborn errors of metabolism, the most common being Hurler syndrome, followed by gangliosidosis type 1, Niemann-Pick disease, Hunter syndrome, and mannosidosis. In such cases, they 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.
Blue Nevi
Nevi of Ota and Ito
Lab Studies
- Usually, laboratory studies are not indicated except when extensive Mongolian spots are present. In these circumstances, it is advisable to evaluate the patient for inborn errors of metabolism in order to avoid irreversible organ damage.
Imaging Studies
- In extensive Mongolian spots involving the back, radiographic studies are needed to rule out a spinal meningeal tumor or anomaly.
Histologic Findings
Dendritic melanocytes with variably pigmented melanosomes typically are located in the deep reticular dermis. The melanocytes usually are oriented parallel to the epidermis. In contrast, the melanocytes in blue nevi are denser in number and more focally aggregated.
Medical Care
Opaque cosmetics may be used as camouflage. The value of lasers is uncertain.
Prognosis
- Mongolian spots usually fade in the first year of life, but, at times, they may persist indefinitely.
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Mongolian Spot excerpt Article Last Updated: Jan 25, 2007
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