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Hurler syndrome (HS), the most common of the mucopolysaccharidoses, is not usually associated with specific cutaneous manifestations.¹ However, recent reports^2-4 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 reports^3-4 from Brazil document 20 patients with HS and extensive mongolian spots.

We describe a black female infant in whom evaluation for extensive mongolian spots led to the diagnosis of HS. Because early diagnosis and treatment are vital to prevent the progressive, irreversible organ damage in HS, the presence of extensive mongolian spots at birth should warrant an investigation.

Report of a Case

A 9-month-old black female infant was referred for evaluation of extensive mongolian spots. Large mongolian spots were present over the lumbosacral area at birth, but smaller lesions continued . . . [Full Text of this Article]

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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Association of Dermal Melanocytosis With Lysosomal Storage Disease: Clinical Features and Hypotheses Regarding Pathogenesis
Hanson et al.
Arch Dermatol 2003;139:916-920.
ABSTRACT | FULL TEXT