Article
Segmental basal cell naevus syndrome caused by an activating mutation in smoothened.
The British journal of dermatology - 1 Jul 2016
Khamaysi Z, Bochner R, Indelman M, Magal L, Avitan-Hersh E, Sarig O, Sprecher E, Bergman R
Abstract excerpt
Aberrant sonic hedgehog signalling, mostly due to PTCH1 mutations, has been shown to play a central role in the pathogenesis of basal cell carcinoma (BCC), as well as in basal cell naevus syndrome (BCNS). Mutations in smoothened (SMO) encoding a receptor for sonic hedgehog have been reported in sporadic BCCs but not in BCNS. We report a case with multiple BCCs, pits and comedones in a segmental distribution over...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.