儿童溶酶体贮积症16例蒙古斑的发生及分布特征

Occurrence and Distribution Characteristics of Extensive Mongolian Spots in 16 Children with Lysosomal Storage Diseases

目的探讨泛发型蒙古斑在溶酶体贮积症(LSDs)的发生及分布特征,并分析其临床意义。方法回顾性分析2017-2020年本院诊治为LSDs的16例患儿及其中6例患儿兄弟姐妹的蒙古斑发生及分布情况。结果全年龄组泛发型蒙古斑发病率达到68.75%。6例为灰蓝色色素沉着,5例为浅灰蓝色色素沉着。累及一个部位者最多见,占45.45%,后背部是最常见的累及部位。5名未合并泛发型蒙古斑的患儿,包括3例黏多糖贮积症(MPS)Ⅳa型及1例MPSⅡ型及1例MPSⅥ型患儿。6例患儿兄弟姐妹均未合并泛发型蒙古斑。结论泛发型蒙古斑与LSDs存在关联性,对合并泛发型蒙古斑患儿进行LSDs筛查有助于LSDs的早期诊断。LSDs合并的泛发型蒙古斑的分布特征可以总结为:持续时间长,可渐进性出现且广泛分布的圆形、椭圆形、大片状灰蓝色或浅灰蓝色斑块,其分布超出骶尾部和臀部向外周延伸至背部和肩部,有时手臂或腿也可见。泛发型蒙古斑在MPSⅠ型及黏脂质贮积症(ML)Ⅱ型受累范围较广,MPSⅣa型及减毒型MPSⅡ和MPSⅥ中发生并不明显。

Objective To study the distribution of extensive Mongolian spots in Lysosomal Storage Diseases(LSDs).Methods A retrospective analysis was performed on Mongolian spots'occurrence and distribution characteristics in 16 LSDs cases diagnosed in our hospital from 2017 to 2020 and their siblings(6).Results The overall incidence of extensive Mongolian spots was 68.75%.Six cases had deep grayblue hyperpigmentation,five cases showed pale gray-blue hyperpigmentation.Extensive Mongolian spots mostly involved one location(45.45%),with the posterior of the trunk being the most common position.Five cases,including three of mucopolysaccharidosis(MPS)Ⅳa,one of MPSⅡand one of MPSⅥ,did not have extensive Mongolian spots.None of the six siblings had extensive Mongolian spots.Conclusion The extensive Mongolian spots correlate with LSDs.LSDs screening in children with extensive Mongolian spots could be a helpful method for the early diagnosis of LSDs.The characteristics of extensive Mongolian spots in LSDs can be summarized as follows:the Mongolian spots are characterized by their persistence,probably progressive nature and extensive distribution.They always distribute beyond the sacral tail and buttock,extending to the back and shoulder and sometimes arms or legs as diffuse gray-blue patches and spots.Extensive Mongolian spots are widely involved in MPSⅠand mucolipidosis(ML)Ⅲ,and are not apparent in MPSⅣa and attenuated MPSⅡandⅥ.