Lal K, Di Lernia V
New York College of Osteopathic Medicine, New York, NY, USA.
Clin Exp Dermatol. 2015 Jan;40(1):45-7. doi: 10.1111/ced.12484.
Linear whorled naevoid hypermelanosis (LWNH) is a rare skin condition, characterized by swirls and whorls of hyperpigmented macules distributed in a reticulate pattern along the lines of Blaschko. We report a 2-year-old boy who presented with linear and whorled hyperpigmentation on his trunk and limbs, following the lines of Blaschko. Hyperkinesia and developmental speech-language impairment were also present. A biopsy specimen showed increased pigmentation within the basal keratinocytes without incontinentia pigmenti. No chromosomal abnormality was found in peripheral blood samples. Chromosomal analysis of skin fibroblasts detected trisomy 4 mosaicism. This case shows for the first time an association of LWNH with trisomy 4 mosaicism. LWNH should not be considered a single entity, but a cutaneous expression of mosaicism.
线性涡状痣样色素沉着过度（LWNH）是一种罕见的皮肤疾病，其特征是色素沉着斑呈漩涡状和涡状，沿Blaschko线呈网状分布。我们报告一名2岁男孩，其躯干和四肢出现沿Blaschko线的线性和涡状色素沉着。还存在运动亢进和发育性言语语言障碍。活检标本显示基底角质形成细胞内色素沉着增加，无色素失禁。外周血样本未发现染色体异常。皮肤成纤维细胞的染色体分析检测到4号染色体三体镶嵌现象。该病例首次显示LWNH与4号染色体三体镶嵌现象有关。LWNH不应被视为单一实体，而应被视为镶嵌现象的一种皮肤表现。
