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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406 EISSN: 1018-4406
Vol. 22, No. 2, 2012, pp. 252-254
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Bioline Code: pe12044
Full paper language: English
Document type: Case Report
Document available free of charge
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Iranian Journal of Pediatrics, Vol. 22, No. 2, 2012, pp. 252-254
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Extensive Mongolian Spots with Autosomal Dominant Inheritance
Y.C., Beeregowda; B.V., Naveen Kumar & Y.C., Manjunatha
Abstract
Background: Mongolian spots are benign skin markings at birth which fade and disappear as the child grows.
Often persistent extensive Mongolian spots are associated with inborn error of metabolism. We report
thirteen people of the single family manifested with extensive Mongolian spots showing autosomal dominant
inheritance.
Case Presentation: A one day old female child, product of second degree consanguineous marriage, born by
normal vaginal delivery with history of meconium stained amniotic fluid and birth asphyxia. On examination
the child showed extensive bluish discoloration of the body involving trunk and extremities in both anterior
and posterior aspects associated with bluish discoloration of the tongue. A detailed family history revealed
most of the family members manifested with extensive bluish discoloration of the body soon after birth which
faded in the first few years of life and completely disappeared by puberty. Thus it was diagnosed to be
extensive Mongolian spots with an autosomal dominant inheritance.
Conclusion: Knowledge about the natural history of extensive Mongolian spots, their inheritance and
association with certain metabolic diseases mainly IEM and Mucopolysaccharidosis aids in the diagnosis and
in order to improve the patient’s prognosis.
Keywords
Mongolian Spots; Dermal Melanocytosis; Inborn Error of Metabolism; Birth Marks
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© Copyright 2012 - Iranian Journal of Pediatrics Alternative site location: http://diglib.tums.ac.ir/pub/
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