Hurler syndrome (HS), the most common of the mucopolysaccharidoses, is not usually associated with specific cutaneous manifestations.1 However, recent reports2-4 document the association of extensive and unusual mongolian spots with HS. In 1976, Stevenson et al2 reported a case of HS, emphasizing the radiologic features. In that report, the patient is described as being "generally hirsute with several mongolian spots." More recently, 2 reports3,4 from Brazil document 20 patients with HS and extensive mongolian spots.
Grant BP, Beard JS, de Castro F, Guiglia MC, Hall BD. Extensive Mongolian Spots in an Infant With Hurler Syndrome. Arch Dermatol. 1998;134(1):108–109. doi:
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