Gatto M, Giannaula R, Micheli F
Med Cutan Ibero Lat Am. 1985;13(6):545-56.
A family in which piebaldism is inherited in a dominant pattern is described. In this kindred the cutaneous signs were associated to a high incidence of cancer. Malignancy usually became apparent in the fourth decade and did not correspond to any fixed histopathologic type. Associated cutaneous alterations were: "cafe au lait" spots in two members and telangiectasias in one. A peculiar distribution of blood vessels in fundus oculi was found in one member. One patient had broad nasal bridge and low implanted ears was found in another. The initial cases were two male brothers who had central nervous system tumours. One had a pituitary adenoma and the other a grade III astrocytoma. As it is important to find biologic markers in familial cancer, we speculate, that may be in this family, the marker could be the cutaneous hypopigmentation. Numerous cutaneous syndromes associated to a predisposition to develop cancer have been described, and may be piebaldism is a new one. More observations are needed to corroborate these findings.
本文描述了一个以显性方式遗传斑驳病的家族。在这个家族中,皮肤症状与癌症的高发病率相关。恶性肿瘤通常在第四个十年变得明显,并且不对应于任何固定的组织病理学类型。相关的皮肤改变包括:两名家族成员有“咖啡牛奶”斑,一名有毛细血管扩张。在一名家族成员中发现眼底血管分布异常。在另一名家族成员中发现一名患者鼻梁宽阔且耳朵低位。最初的病例是两名患有中枢神经系统肿瘤的男性兄弟。其中一人患有垂体腺瘤,另一人患有III级星形细胞瘤。由于在家族性癌症中寻找生物标志物很重要,我们推测,在这个家族中,标志物可能是皮肤色素减退。已经描述了许多与患癌易感性相关的皮肤综合征,斑驳病可能是一种新的综合征。需要更多的观察来证实这些发现。