Yébenes M, Toll A, Vélez M, Barranco C, Alonso-López N A, Gonzalez-Sarmiento R, Bellosillo B, Pujol R M
Department of Dermatology, Hospital del Mar IMAS, Barcelona, Spain.
Clin Exp Dermatol. 2008 Jul;33(4):429-32. doi: 10.1111/j.1365-2230.2007.02663.x. Epub 2008 Feb 28.
Mosaicisms are characterized by genetic or functional differences between > or = 2 cell lines in one person, derived from a single zygote. Of the various clinical patterns of cutaneous mosaicism, linear lesions following Blaschko's lines are probably the most commonly encountered, Several cases of multiple basal cell carcinomas or basaloid hamartomatous lesions distributed in a segmentary distribution and following Blaschko's lines have been described. The various terms of 'linear unilateral basal cell naevus with comedones', 'linear unilateral basaloid follicular hamartoma', 'linear unilateral basal cell naevus', and 'basal-cell and linear unilateral adnexal hamartoma' have been used to define this apparently heterogeneous group of disorders. We report a 66-year-old woman with a linear unilateral lesion that appeared during puberty and that histologically showed an adnexal hamartomatous lesion with multiple superficial and nodular basal cell carcinomas. Focal areas of glandular and follicular differentiation were also noted. Molecular studies from these lesions ruled out loss of heterozygosity or mutations in patched gene.
嵌合体的特征是一个人源自单个受精卵的≥2种细胞系之间存在遗传或功能差异。在皮肤嵌合体的各种临床模式中，沿布拉斯科线分布的线性损害可能是最常见的。已有多例多发性基底细胞癌或基底样错构瘤性损害呈节段性分布并沿布拉斯科线分布的病例报道。“伴有粉刺的线性单侧基底细胞痣”、“线性单侧基底样毛囊错构瘤”、“线性单侧基底细胞痣”以及“基底细胞和线性单侧附属器错构瘤”等不同术语已被用于定义这一明显异质性的疾病组。我们报告一名66岁女性，其青春期出现线性单侧损害，组织学显示为附属器错构瘤性损害伴多发性浅表性和结节性基底细胞癌。还注意到有局灶性腺体和毛囊分化区域。对这些损害进行的分子研究排除了patched基因杂合性缺失或突变。
