Happle Rudolf
Universitäts-Hautklinik, Hauptstr. 7, 79104, Freiburg, Deutschland.
Dermatologie (Heidelb). 2023 May;74(5):310-315. doi: 10.1007/s00105-023-05135-4. Epub 2023 Mar 17.
Autosomal dominant transmission with sex-limited manifestation represents a previously unrecognized mode of inheritance. The white lentiginosis of Grosshans exclusively occurs in females, whereas male gene carriers remain clinically unaffected but can transmit the underlying mutation to their offspring. There are some other examples: Hereditary bilateral lymphedema of the CELSR1 type that only occurs in females, too. Unlike common sebaceous nevus (HRAS or KRAS mutations), cerebriform sebaceous nevus is caused by a postzygotic lethal FGFR2 mutation. Cutis marmorata telangiectatica congenita and reticular capillary nevus have previously been considered one single entity. Today, their dichotomy is proven at the molecular level. It is important to be aware of the new port-wine nevus of the AKT3 type because this anomaly may constitute a cutaneous marker of severe congenital brain defects. The newly described transient abdominal telangiectasia in newborns can easily be mistaken as a capillary nevus, but represents an innocuous neonatal phenomenon that spontaneously fades away within the first three months.
常染色体显性遗传伴性限制表现代表了一种先前未被认识的遗传模式。格罗斯汉斯白色雀斑样痣仅发生于女性,而男性基因携带者在临床上无表现,但可将潜在突变传递给其后代。还有其他一些例子:CELSR1型遗传性双侧淋巴水肿也仅发生于女性。与常见皮脂腺痣(HRAS或KRAS突变)不同,脑回状皮脂腺痣由合子后致死性FGFR2突变引起。先天性大理石样皮肤毛细血管扩张症和网状毛细血管痣以前被认为是同一实体。如今,它们在分子水平上的二分法已得到证实。认识到AKT3型新的葡萄酒色痣很重要,因为这种异常可能是严重先天性脑缺陷的皮肤标志物。新描述的新生儿短暂性腹部毛细血管扩张症很容易被误诊为毛细痣,但它是一种无害的新生儿现象,在出生后的头三个月内会自行消退。