McGrae J D, Hashimoto K
Section of Dermatology, Michigan State University, Flint, Michigan 48532-2312, USA.
Br J Dermatol. 1996 Apr;134(4):727-30.
Multiple facial angiofibromas are thought to be a pathognomonic and common, feature of tuberous sclerosis. In contrast, it is rare to see multiple angiofibromas limited to one side of the face. We have studied a patient with multiple angiofibromas of one cheek, in order to search for other manifestations of tuberous sclerosis and to determine the histochemical identity of the angiofibromas. No evidence of other pathology known to be associated with the tuberous sclerosis complex was uncovered. Histopathology of the unilateral lesions revealed focal fibroplasia and positive cellular staining for factor XIIIa and vimentin, similar to that described for bilateral angiofibromas. We suggested that the segmental expression of tuberous sclerosis, in the form of unilateral facial angiofibromas, may result from a postzygotic mutation.
多发性面部血管纤维瘤被认为是结节性硬化症的一个具有诊断意义的常见特征。相比之下，局限于一侧面部的多发性血管纤维瘤则较为罕见。我们研究了一名一侧脸颊有多发性血管纤维瘤的患者，以寻找结节性硬化症的其他表现，并确定血管纤维瘤的组织化学特征。未发现与结节性硬化症相关的其他已知病理证据。单侧病变的组织病理学显示局灶性纤维增生，且因子ⅩⅢa和波形蛋白细胞染色呈阳性，与双侧血管纤维瘤的描述相似。我们认为，以单侧面部血管纤维瘤形式出现的结节性硬化症节段性表现可能是由合子后突变引起的。
