Extensive Mongolian Spots with Autosomal Dominant Inheritance


Manjunatha YC 1 , Naveen Kumar BV 2 , Beeregowda YC 2 , *

1 Department of Radiodiagnosis, Pondicherry Institute of Medical Sciences, Kalapet, India

2 Department of Pediatrics, Sri Devaraj Urs Medical College, Tamaka, India

How to Cite: YC M, Kumar BV N, YC B. Extensive Mongolian Spots with Autosomal Dominant Inheritance , Iran J Pediatr. 2015 ; 22(2):252-254.


Iranian Journal of Pediatrics: 22 (2); 252-254
Published Online: June 30, 2012
Article Type: Case Report
Received: December 01, 2010
Accepted: March 13, 2011


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.




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