Destructive Basal Cell Carcinoma in a Patient with Basal Cell Nevus Syndrome and an Interstitial Deletion of Chromosome 9q22

2009 ◽  
Vol 35 (12) ◽  
pp. 2051-2053 ◽  
Author(s):  
Klara Mosterd ◽  
Anja Sommer ◽  
Arienne van Marion ◽  
Martin Lacko ◽  
Jos Herbergs ◽  
...  
2010 ◽  
Vol 26 (3) ◽  
pp. 147-152 ◽  
Author(s):  
Michel J. Belliveau ◽  
Dustin J. Coupal ◽  
Seymour Brownstein ◽  
David R. Jordan ◽  
Robert Prokopetz

1972 ◽  
Vol 21 (1-2) ◽  
pp. 94-98
Author(s):  
Luc Goeminne

SummaryA case is described of pseudo-pseudo-hypoparathyroidism, with the following symptoms: round face, large forehead, relative backwardness, short stature, relative obesity, congenital muscular torticollis, cervical fused vertebrae, spina bifida occulta cervicalis, bifid rib, bilateral brachymetacarpy IV. Some of these also occur in the basal-cell nevus syndrome. The patient does not however show a basal-cell carcinoma, nor mandibula cysts.


2021 ◽  
Vol 12 (3) ◽  
pp. 469
Author(s):  
Keshavamurthy Vinay ◽  
Raihan Ashraf ◽  
Akanksha Kaushik ◽  
Kirti Gupta

2020 ◽  
Vol 73 (10) ◽  
pp. 678-680 ◽  
Author(s):  
Qisi Sun ◽  
Lihi Atzmony ◽  
Theodore Zaki ◽  
Albert Peng ◽  
Jeffrey Sugarman ◽  
...  

Basal cell carcinoma (BCC) is the most common human malignant neoplasm. However, there are multiple BCC subtypes that share clinical features while demanding different management. We present a case of a woman with hundreds of BCCs throughout her body that were resistant to vismodegib and without other features of basal cell nevus syndrome. Histological results of biopsies taken from various sites revealed three lesions characteristic of infundibulocystic BCCs (IBCCs) and two BCCs. Paired whole-exome sequencing performed using DNA isolated from blood and one of her IBCCs uncovered a germline heterozygous SUFU (Suppressor of Fused) mutation. The downstream location of SUFU in the hedgehog pathway explains why its mutation results in IBCCs that will not respond to any therapeutics that target upstream components of SUFU. These results capture the significance of histological and genetic analysis in directing treatment.


2011 ◽  
Vol 23 (Suppl 1) ◽  
pp. S36 ◽  
Author(s):  
Jae Wan Go ◽  
Shin Han Kim ◽  
Sang Yeop Yi ◽  
Han Kyoung Cho

2013 ◽  
Vol 39 (9) ◽  
pp. 1413-1414 ◽  
Author(s):  
Mina S. Ally ◽  
Ashley Wysong ◽  
Jean Y. Tang ◽  
Sumaira Aasi

2017 ◽  
Vol 153 (2) ◽  
pp. 189 ◽  
Author(s):  
Daniel C. Solis ◽  
Gina P. Kwon ◽  
Katherine J. Ransohoff ◽  
Shufeng Li ◽  
Harvind S. Chahal ◽  
...  

2018 ◽  
Vol 138 (5) ◽  
pp. S103
Author(s):  
J.M. Fisher ◽  
K.A. Levandoski ◽  
D.W. Bartenstein ◽  
E. Lilly ◽  
D. Kroshinsky ◽  
...  

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