Wilson Louise C, Ajayi-Obe Ekundayo, Bernhard Birgitta, Maas Saskia M
Clinical & Molecular Genetics Unit, Institute of Child Health & Great Ormond Street Hospital, London, UK.
Am J Med Genet A. 2006 Dec 1;140(23):2625-30. doi: 10.1002/ajmg.a.31374.
We report on the occurrence of discrete patches of unusually long pigmented hair on the skin of three patients with Gorlin syndrome from two unrelated families with confirmed heterozygous mutations in the Patched (PTCH) gene. The PTCH protein is a negative regulator of Hedgehog signaling, and the Sonic Hedgehog (SHH)-PTCH pathway is known to play an important role in the formation and cycling of the hair follicle. We believe that the patches represent a genuine physical sign associated with Gorlin syndrome, and discuss molecular mechanisms by which they might arise.
我们报告了来自两个不相关家族的三名戈林综合征患者皮肤上出现离散的异常长色素沉着毛发斑块的情况，这两个家族的 patched（PTCH）基因存在已确认的杂合突变。PTCH 蛋白是刺猬信号通路的负调节因子，而 Sonic Hedgehog（SHH）-PTCH 通路在毛囊的形成和循环中起着重要作用。我们认为这些斑块代表了与戈林综合征相关的真实体征，并讨论了它们可能出现的分子机制。
