Results 1 to 10 of about 7,017,185 (188)

Case report: A novel PTCH1 frameshift mutation leading to nevoid basal cell carcinoma syndrome [PDF]

Frontiers in Medicine
A patient presenting with several basal cell carcinomas, pigmented nevi, and developmental defects was diagnosed with nevoid basal cell carcinoma syndrome.
Xiaoqing Lang, Ting Wang, Shuping Guo, Yao Dang, Yingjie Zhang, Hongye Liu, Hongxia He, Li Li, Huajie Yuan, Ting He, Qiong Wang, Shiyu Qin, Runping Cheng, Xingquan Yan, Hongzhou Cui   +14 more
doaj   +4 more sources

A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane [PDF]

BMC Ophthalmology
Purpose To report the first case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane in Chinese patient. Observations A 12-year-old female presented with bilateral visual decline.
Bin Meng, Min Cui, Ang Ji
doaj   +2 more sources

Nevoid basal cell carcinoma syndrome with a novel PTCH1 variant: Genetic testing and literature review in a case report [PDF]

Journal of International Medical Research
Nevoid basal cell carcinoma syndrome is a rare autosomal dominant hereditary disorder characterized with almost complete penetrance and multiple clinical manifestations.
Wen Li, Ziyu Guo, Yujia Liang, Min Li, Weiwei Wu, Feng Gao   +5 more
doaj   +2 more sources

Improvement of Basal Cell Carcinomas in Patients with Nevoid Basal Cell Carcinoma Syndrome Following by 5-Aminolevulinic Acid Photodynamic Therapy: A Case Report [PDF]

Clinical, Cosmetic and Investigational Dermatology, 2021
Yan Jing Chen,* Qin Yi,* Yi Ming Li, Li Li Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, Sichuan, People’s Republic of China*These authors contributed equally to this workCorrespondence: Li ...
Chen YJ, Yi Q, Li YM, Li L
doaj   +2 more sources

Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report [PDF]

Journal of Medical Case Reports
Background Basal cell nevus syndrome, also known as Gorlin or Gorlin–Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene.
Noura Abdul Rahman, Fatima Breim, Joud Zakour, Zainab Srouji, Silva Ishkhanian   +4 more
doaj   +2 more sources

Nevoid Basal Cell Carcinoma Syndrome: A Long-Term Study in a Family. [PDF]

Craniomaxillofac Trauma Reconstr, 2016
We present a family case series with 10 individuals having nevoid basal cell carcinoma syndrome (NBCCS) with a 10-year follow-up. All articles published in the literature between 1967 and 2011 on familial Gorlin-Goltz syndrome in any language were ...
de Santana Santos T, Vajgel A, Martins-Filho PR, de Albuquerque Maranhao Filho AW, De Holanda Vasconcellos RJ, Frota R, Filho JR.   +6 more
europepmc   +3 more sources

Nevoid Basal Cell Carcinoma Syndrome: Three Cases from the Same Family

Indian Journal of Dermatology
Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease caused by PTCH gene mutation. Despite sporadic cases and case series reported worldwide, few pedigrees have been described.
Ying Yan, Huajie Zhong, Xue Xu, Yuan Wu, Yingming Ma, Xiaolei Xie   +5 more
doaj   +2 more sources

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 [PDF]

Clinical, Cosmetic and Investigational Dermatology, 2020
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 Für Dermatologie, Venerologie Und Allergologie Universitätsklinikum Schleswig ...
Lear JT, Hauschild A, Stockfleth E, Squittieri N, Basset-Seguin N, Dummer R   +5 more
doaj   +2 more sources

Multiple Basal Cell Carcinomas in an Adolescent with an MLPA-Detected PTCH1-Region Deletion and a Gorlin-Goltz Phenotype [PDF]

Balkan Journal of Medical Genetics
Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome or basal cell naevus syndrome, is a rare hereditary cancer-predisposition disorder most often caused by disruption of the Hedgehog signaling pathway, particularly alterations of ...
Mitrova Telenta J, Risteska K, Dohcheva Karajovanov I, Breshkovska H, Duma S, Mircevska Arsovska E, Dimova M, Simeonovski V, Plaseska-Karanfilskа D, Ahtarova B   +9 more
doaj   +2 more sources

Gorlin syndrome presenting with a unilateral ovarian fibroma in a 22-year-old woman: a case report

Journal of Medical Case Reports, 2012
Introduction Nevoid basal cell carcinoma syndrome, or Gorlin syndrome, is an inherited disorder characterized by malignancies of the skin and other organs, skeletal abnormalities, and congenital malformations.
Finch Terence, Pushpanathan Chitra, Brown Krista, El-Gohary Yasser   +3 more
doaj   +1 more source