Myers Joseph N, Davis Loretta, Sheehan Daniel, Kulharya Anita S
Division of Dermatology, Georgia Regents University, Augusta, Georgia.
Pediatr Dermatol. 2015 Mar-Apr;32(2):263-6. doi: 10.1111/pde.12375. Epub 2014 Jun 12.
A 6-year-old girl presented for evaluation of skin discoloration. Examination revealed oval and oblong hypopigmented macules on her trunk and extremities. Cytogenetic studies and immunohistochemistry of biopsies from normally pigmented and hypopigmented skin revealed mosaicism for partial tetrasomy for 13q with low melanocyte levels in lesional skin. The patient was diagnosed with phylloid hypomelanosis (PH), a distinct clinical entity linked to abnormalities in chromosome 13. This article reviews the literature regarding PH and supports the notion that mosaicism of the melanocyte region of chromosome 13q is responsible for PH.
一名6岁女孩因皮肤变色前来评估。检查发现其躯干和四肢有椭圆形及长方形色素减退斑。对正常肤色和色素减退皮肤的活检组织进行细胞遗传学研究和免疫组织化学分析，结果显示存在13q部分四体的嵌合体现象，皮损处黑素细胞水平较低。该患者被诊断为叶状色素减退症（PH），这是一种与13号染色体异常相关的独特临床病症。本文回顾了关于PH的文献，并支持13q染色体黑素细胞区域的嵌合体现象是PH病因的观点。
