Orphan designation: Itraconazole, Treatment of naevoid basal-cell carcinoma syndrome (Gorlin syndrome)

2019 ◽  
Author(s):  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Gorlin Syndrome ◽  
Orphan Designation ◽  
Itraconazole Treatment

Ameloblastoma associated with the nevoid basal cell carcinoma (Gorlin) syndrome

2008 ◽  
Vol 105 (6) ◽  
pp. e10-e13 ◽  
Author(s):  
Behnam Eslami ◽  
Carol Lorente ◽  
David Kieff ◽  
Paul A. Caruso ◽  
William C. Faquin
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Gorlin Syndrome

scholarly journals Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

2016 ◽  
Vol 10 (2) ◽  
pp. 119-124 ◽  
Author(s):  
Scott C. Bresler ◽  
Bonnie L. Padwa ◽  
Scott R. Granter
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Gorlin Syndrome

scholarly journals A Rare Case of a Symptomatic Tumor Found in the Groin Area: An Atypical Location Unexposed to the Known Causes

2015 ◽  
Vol 8 (3) ◽  
pp. 536-539
Author(s):  
Ellen Toyonaga ◽  
Hiroo Hata ◽  
Chihiro Nakayama ◽  
Erina Homma ◽  
Toshiyuki Miyashita ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Early Onset ◽  
Rare Case ◽  
Gorlin Syndrome ◽  
Developmental Abnormalities ◽  
Wide Range ◽  
First Onset ◽  
Hereditary Condition

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The syndrome consists of early-onset and/or multiple BCC. Herein we report a rare NBCCS case in which the first BCC onset occurred in the groin area. To the best of our knowledge, there have been no reports of first-onset BCC in the groin area in an NBCCS patient of any race.

scholarly journals The Role of Dermal Fibroblasts in Nevoid Basal Cell Carcinoma Syndrome Patients: An Overview

2020 ◽  
Vol 21 (3) ◽  
pp. 720 ◽  
Author(s):  
Barbara Bellei ◽  
Silvia Caputo ◽  
Anna Carbone ◽  
Vitaliano Silipo ◽  
Federica Papaccio ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Genetic Disorder ◽  
Dermal Fibroblasts ◽  
Phenotypic Traits ◽  
Skin Area ◽  
Gorlin Syndrome ◽  
Activated State ◽  
The Impact

Nevoid basal cell carcinoma syndrome (NBCCS), also named Gorlin syndrome, is a rare multisystem genetic disorder characterized by marked predisposition to basal cell carcinomas (BCCs), childhood medulloblastomas, maxillary keratocysts, celebral calcifications, in addition to various skeletal and soft tissue developmental abnormalities. Mutations in the tumor suppressor gene PATCHED1 (PTCH1) have been found to be associated in the majority of NBCCS cases. PATCH1 somatic mutations and loss of heterozygosity are also very frequent in sporadic BCCs. Unlike non-syndromic patients, NBCCS patients develop multiple BCCs in sun-protected skin area starting from early adulthood. Recent studies suggest that dermo/epidermal interaction could be implicated in BCC predisposition. According to this idea, NBCCS fibroblasts, sharing with keratinocytes the same PTCH1 germline mutation and consequent constitutive activation of the Hh pathway, display features of carcinoma-associated fibroblasts (CAF). This phenotypic traits include the overexpression of growth factors, specific microRNAs profile, modification of extracellular matrix and basement membrane composition, increased cytokines and pro-angiogenic factors secretion, and a complex alteration of the Wnt/β-catenin pathway. Here, we review studies about the involvement of dermal fibroblasts in BCC predisposition of Gorlin syndrome patients. Further, we matched the emerged NBCCS fibroblast profile to those of CAF to compare the impact of cell autonomous “pre-activated state” due to PTCH1 mutations to those of skin tumor stroma.

scholarly journals Efficacy and Safety of Sonidegib in Adult Patients with Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome): Results from a Phase 2, Double-Blind, Randomized Trial

2020 ◽  
Vol Volume 13 ◽  
pp. 117-121 ◽  
Author(s):  
John T Lear ◽  
Axel Hauschild ◽  
Eggert Stockfleth ◽  
Nicholas Squittieri ◽  
Nicole Basset-Seguin ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Randomized Trial ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Adult Patients ◽  
Phase 2 ◽  
Efficacy And Safety ◽  
Gorlin Syndrome ◽  
Double Blind
Sign in / Sign up

Export Citation Format

Share Document