Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome)

摘要

Introduction: Mongolian spots (MS) are usually limited benign skin marks present at birth or appearing within the first weeks of life. MS most commonly occur in the lumbosacral area, but can also be found in the gluteal or the back regions. They typically fade and disappear spontaneously within 4 years, but can occasionally persist for life. Less frequently, MS are extensive, involving large areas over the back, the trunk, the extremities, and in some cases the face. Extensive Mongolian spots (EMS) deserve attention because they may be associated with inborn errors of metabolism (Ashrafi et al., 2006). More particularly, EMS have been associated mainly with lysosomal storage diseases (LSD), including Hunter's disease (Ochiai et al., 2003) and GM1 gangliosidosis (Hanson et al., 2003), and to a lesser extent with Niemann-Pick's disease, Hurler's disease, alpha-mannosidosis, and mucolipidosis (Su et al., 2010).