Efficacy and Safety of Sonidegib in Adult Patients with Nevoid Basal C | CCID – Dove Medical Press

By daniellenierenberg

John T Lear,1 Axel Hauschild,2 Eggert Stockfleth,3 Nicholas Squittieri,4 Nicole Basset-Seguin,5 Reinhard Dummer6

1Manchester Royal Infirmary, Manchester, UK; 2Klinik Fr Dermatologie, Venerologie Und Allergologie Universittsklinikum Schleswig-Holstein, Kiel, Germany; 3Universittshautklinik Bochum, Bochum, Germany; 4Sun Pharmaceutical Industries, Inc., Princeton, NJ, USA; 5Department of Dermatology, Hpital Saint Louis, Paris, France; 6Skin Cancer Center University Hospital, Zrich, Switzerland

Correspondence: John T LearUniversity of Manchester, 46 Grafton Street, Manchester M13 9NT, UKTel +44 161 276 4173Fax +44 161 276 8881Email john.lear@srft.nhs.uk

Nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome, is a rare hereditary disease characterized by the development of multiple cutaneous basal cell carcinomas (BCCs) from a young age.1 Loss-of-function germline mutations in the hedgehog-related patched 1 (PTCH1) tumor suppressor gene are the most common cause of NBCCS.1 The hedgehog signaling pathway plays a major role in embryonic development, and in adulthood, is involved in the renewal and maintenance of distinct tissues, including hair follicles, muscle stem cells, and gastric epithelium.2 Its abnormal activation is thought to drive the formation of both sporadic BCCs and those resulting from NBCCS.1 Patients with NBCCS inherit one inactive copy of PTCH1 and then acquire a second-hit mutation, resulting in hedgehog pathway activation and BCC formation.1 Mutations in Suppressor of fused (SUFU) or the PTCH1 homolog PTCH2 have also been found in a subset of patients meeting criteria for NBCCS.1,3

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Efficacy and Safety of Sonidegib in Adult Patients with Nevoid Basal C | CCID - Dove Medical Press

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