Kaufmann D, Tinschert S, Algermissen B
Abteilung Humangenetik, Universität Ulm, Albert-Einstein-Allee 11, D 89070 Ulm, Germany.
Eur J Dermatol. 2001 Nov-Dec;11(6):521-6.
The formation of dermal neurofibromas is a hallmark of the neurofibromatosis type 1 (NF1). A total loss of the NF1 gene product by stochastic events inactivating the wild type allele in Schwann cells should precede the development of neurofibromas. Dermal neurofibromas tend to be located mainly on the surface of the trunk and not in the body periphery. This distribution partly resembles the density of sensitive nerve endings in the epidermis. Our hypothesis is that a better correlation concerns the pattern of normal body surface temperature. According to our clinical observations we assume that in skin areas with higher temperatures the number of visible dermal neurofibromas is higher than in colder areas such as the arms/legs or nose. It is known that differences in temperature are able to determine differentiation. We suggest that the regulation of skin temperature is also involved in the formation of NF1 dermal neurofibromas and is related to the intrafamilial variability in NF1.
皮肤神经纤维瘤的形成是1型神经纤维瘤病（NF1）的一个标志。雪旺细胞中野生型等位基因因随机事件而失活导致NF1基因产物完全缺失，这一情况应先于神经纤维瘤的发生。皮肤神经纤维瘤往往主要位于躯干表面，而非身体外周。这种分布部分类似于表皮中敏感神经末梢的密度。我们的假设是，更好的相关性与正常体表温度模式有关。根据我们的临床观察，我们推测在温度较高的皮肤区域，可见的皮肤神经纤维瘤数量高于诸如手臂/腿部或鼻子等较冷区域。众所周知，温度差异能够决定分化。我们认为皮肤温度的调节也参与了NF1皮肤神经纤维瘤的形成，并且与NF1的家族内变异性有关。
