Hausser I, Anton-Lamprecht I
Hum Genet. 1987 May;76(1):73-80. doi: 10.1007/BF00283054.
In otherwise asymptomatic parents of two unrelated children severely affected with tuberous sclerosis (TS), the ultrastructure of hypomelanotic skin lesions was investigated. In the hypomelanotic macules of both mothers of the two families, the population density of melanocytes was normal, melanization, however, was markedly suppressed. Therefore, these macules represent typical "white leaf-shaped macules" characteristic of tuberous sclerosis. Especially by applying the dihydroxyphenylalanine (DOPA) reaction to the ultrastructural level, it was possible to separate the TS-macules from the vitiliginous lesions of one father with a decrease of functional melanocytes as well as from other congenital circumscribed hypomelanoses. Thus electron microscopy in combination with the DOPA reaction may be helpful in recognizing a "forme fruste" of the dominantly inherited tuberous sclerosis (i.e. identification of white leaf-shaped macules) to enable genetic counselling and family planning by marking carriers of the mutant TS gene amongst the relatives of a patient and to exclude a sporadic mutation.
在两个患有严重结节性硬化症（TS）的不相关孩子的无症状父母中，对色素减退性皮肤病变的超微结构进行了研究。在两个家庭的母亲的色素减退斑中，黑素细胞的数量密度正常，然而黑素化明显受到抑制。因此，这些斑代表结节性硬化症典型的“白色叶状斑”。特别是通过在超微结构水平上应用二羟基苯丙氨酸（DOPA）反应，能够将TS斑与一名功能性黑素细胞减少的父亲的白癜风病变以及其他先天性局限性色素减退区分开来。因此，电子显微镜检查结合DOPA反应可能有助于识别显性遗传结节性硬化症的“顿挫型”（即识别白色叶状斑），以便通过标记患者亲属中的突变TS基因携带者来进行遗传咨询和计划生育，并排除散发性突变。
