Yim S Y, Lee I Y, Rah U W, Moon H W, Hahn S H, Lee E S, Yim H L
Department of Physical Medicine & Rehabilitation, Ajou University School of Medicine, Suwon, Korea.
Yonsei Med J. 1996 Aug;37(4):290-4. doi: 10.3349/ymj.1996.37.4.290.
We report a case of a 25-month-old girl presented to us for the evaluation of a severe delayed psychomotor development who also has pigmentary abnormalities. Linear and whorled hyperpigmentations following Blaschko's lines were noticed on her entire body except on her face, palms, soles, eyes and mucous membranes, which closely resembled those found in hypomelanosis of Ito, but inversely pigmented. Histologic examination revealed basal layer hyperpigmentation without incontinence of pigment or dermal melanophages. Chromosomal analysis of cultured peripheral leukocytes and fibroblasts from the hyperpigmented and the hypopigmented skin revealed normal female karyotype with no evidence of mosaicism or chimerism. This entity represents a kind of neurocutaneous syndrome-referred to by some authors as linear and whorled nevoid hypermelanosis.
我们报告一例25个月大的女童，因严重的精神运动发育迟缓前来就诊，同时伴有色素沉着异常。除面部、手掌、足底、眼睛和黏膜外，她全身均可见沿布拉斯科线分布的线状和涡状色素沉着过度，与伊藤色素减退症所见相似，但色素沉着情况相反。组织学检查显示基底层色素沉着过度，无色素失禁或真皮内黑素细胞。对色素沉着过度和色素减退皮肤的培养外周血白细胞和成纤维细胞进行染色体分析，结果显示正常女性核型，无嵌合体或异源嵌合体证据。这种病症代表一种神经皮肤综合征——一些作者称之为线状和涡状痣样色素沉着过度症。
