scholarly journals Basal Cell Carcinomas in Gorlin Syndrome: A Review of 202 Patients

2011 ◽  
Vol 2011 ◽  
pp. 1-6 ◽  
Author(s):  
Elizabeth A. Jones ◽  
Mohammed Imran Sajid ◽  
Andrew Shenton ◽  
D. Gareth Evans
Keyword(s):  
Basal Cell ◽  
Early Life ◽  
Disease Burden ◽  
Autosomal Dominant ◽  
Gorlin Syndrome ◽  
Developmental Defects ◽  
Basal Cell Carcinomas ◽  
Males And Females ◽  
Multiple Basal Cell Carcinomas ◽  
Mutation Type

Gorlin syndrome (Naevoid Basal Cell Carcinoma Syndrome) is a rare autosomal dominant syndrome caused by mutations in thePTCHgene with a birth incidence of approximately 1 in 19,000. Patients develop multiple basal cell carcinomas of the skin frequently in early life and also have a predisposition to additional malignancies such as medulloblastoma. Gorlin Syndrome patients also have developmental defects such as bifid ribs and other complications such as jaw keratocysts. We studied the incidence and frequency of basal cell carcinomas in 202 Gorlin syndrome patients from 62 families and compared this to their gender and mutation type. Our data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden.

scholarly journals Gorlin's Syndrome: Case Report and Management Protocol

2009 ◽  
Vol 12 (1) ◽  
pp. 61-64
Author(s):  
R Rosti ◽  
A Irem ◽  
H Kayserili ◽  
S Yalcin
Keyword(s):  
Case Report ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
The Body ◽  
Facial Appearance ◽  
Management Protocol ◽  
Gorlin’S Syndrome ◽  
Basal Cell Carcinomas ◽  
Gorlin's Syndrome ◽  
Multiple Basal Cell Carcinomas

Gorlin's Syndrome: Case Report and Management ProtocolGorlin's syndrome (GS) is a rare autosomal, dominant syndrome, characterized by multiple basal cell carcinomas, odontogenic keratocysts, a characteristic facial appearance, skeletal anomalies and malignancies of various organs throughout the body. We describe a 14-year-old girl with GS and propose a management protocol.

scholarly journals Patched1 haploinsufficiency severely impacts intermediary metabolism in the skin of Ptch1+/−/ODC transgenic mice

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Changzhao Li ◽  
Bharat Mishra ◽  
Mahendra Kashyap ◽  
Zhiping Weng ◽  
Shaida A. Andrabi ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Tricarboxylic Acid Cycle ◽  
Normal Skin ◽  
Tumor Development ◽  
Single Copy ◽  
Tricarboxylic Acid ◽  
Gorlin Syndrome ◽  
Autosomal Dominant Disorder ◽  
Basal Cell Carcinomas ◽  
Multiple Basal Cell Carcinomas

Abstract The study of dominantly heritable cancers has provided insights about tumor development. Gorlin syndrome (GS) is an autosomal dominant disorder wherein affected individuals develop multiple basal cell carcinomas (BCCs) of the skin. We developed a murine model of Ptch1 haploinsufficiency on an ornithine decarboxylase (ODC) transgenic background (Ptch1+/−/ODCt/C57BL/6) that is more sensitive to BCCs growth as compared with Ptch1+/+/ODCt/C57BL/6 littermates. Ptch1+/−/ODCt/C57BL/6 mice show an altered metabolic landscape in the phenotypically normal skin, including restricted glucose availability, restricted ribose/deoxyribose flow and NADPH production, an accumulation of α-ketoglutarate, aconitate, and citrate that is associated with reversal of the tricarboxylic acid cycle, coupled with increased ketogenic/lipogenic activity via acetyl-CoA, 3-hydroybutyrate, and cholesterol metabolites. Also apparent was an increased content/acetylation of amino-acids, glutamine and glutamate, in particular. Accordingly, metabolic alterations due to a single copy loss of Ptch1 in Ptch1+/−/ODCt/C57BL/6 heterozygous mice may provide insights about the cancer prone phenotype of BCCs in GS patients, including biomarkers/targets for early intervention.

scholarly journals Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Gustav Askaner ◽  
Ulrikke Lei ◽  
Birgitte Bertelsen ◽  
Alessandro Venzo ◽  
Karin Wadt
Keyword(s):  
Basal Cell ◽  
Regulatory Genes ◽  
Tumour Suppressor ◽  
Hedgehog Pathway ◽  
Tumour Suppressor Genes ◽  
Gorlin Syndrome ◽  
Suppressor Genes ◽  
Pathogenic Variants ◽  
Basal Cell Carcinomas ◽  
Multiple Basal Cell Carcinomas

Gorlin syndrome is mainly caused by pathogenic germline variants in the tumour suppressor genes PTCH1 and SUFU, both regulatory genes in the hedgehog pathway. However, the phenotypes of patients with PTCH1 and SUFU pathogenic variants seem to differ. We present a family with a frameshift variant in the SUFU gene c.954del, p.Asn319Thrfs∗42 leading to meningiomas and multiple basal cell-carcinomas.

Radiotherapy in Gorlin Syndrome

2015 ◽  
Vol 20 (2) ◽  
pp. 159-162 ◽  
Author(s):  
Sarah Baker ◽  
Kurian Joseph ◽  
Patricia Tai
Keyword(s):  
Basal Cell Carcinoma ◽  
Literature Review ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
Gorlin Syndrome ◽  
Autosomal Dominant Disorder ◽  
Comprehensive Literature Review ◽  
Basal Cell Carcinomas ◽  
Treatment Refractory

Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant disorder with multiple manifestations including early onset of cutaneous basal cell carcinomas (BCCs). Radiotherapy has traditionally been contraindicated due to reports of BCC induction. We describe here a patient treated successfully with radiotherapy with no tumour induction at 57 months of follow-up. A comprehensive literature review of radiotherapy outcomes in patients with Gorlin syndrome suggests radiotherapy may be a feasible treatment option for adult patients with treatment refractory lesions or surgical contraindication.

scholarly journals Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome) in Children

2021 ◽  
Vol 3 (5) ◽  
pp. 15-17
Author(s):  
S. Binsheikhan ◽  
S. Mittal ◽  
M. Al Abadie
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Genetic Disorder ◽  
Female Child ◽  
Treatment Modalities ◽  
Gorlin Syndrome ◽  
Cutaneous Manifestations ◽  
Basal Cell Carcinomas ◽  
Multiple Basal Cell Carcinomas

Introduction: Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder characterised by development of multiple basal cell carcinomas (BCC) at a young age. Case report: A 7 year female child presented with MULTIPLE skin growths on the neck, face and upper chest for 3 years, with prominent forehead and mild non-scarring alopecia. She also had a history of medulloblastoma treated 3 years ago. There was no significant family history. Biopsy from one of the lesions showed basal cell carcinoma (BCC). Discussion: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder caused by mutations in the tumour suppressor patched 1 (PTCH-1) gene. Patients present with both cutaneous and extra-cutaneous manifestations. Multiple basal cell carcinomas (BCCs) are one of the most frequent cutaneous manifestations, occurring on both photo-exposed and non-exposed areas. The commonest extra-cutaneous tumours are medulloblastomas, which are often the first presentation of the disease. There are multiple but no established treatment modalities for the disease.

Follicular atrophoderma with multiple basal cell carcinomas. An abortive form of bazex syndrome.

1989 ◽  
Vol 51 (2) ◽  
pp. 250-255
Author(s):  
Seiji ARASE ◽  
Hideki NAKANISHI ◽  
Shin HARADA ◽  
Fumio SHIGEMI ◽  
Katsuyuki TAKEDA
Keyword(s):  
Basal Cell ◽  
Basal Cell Carcinomas ◽  
Multiple Basal Cell Carcinomas

scholarly journals Undifferentiated pleomorphic sarcoma in oropharyngeal mucosa of patients with multiple basal cell carcinomas

Rare Tumors ◽  
2021 ◽  
Vol 13 ◽  
pp. 203636132110264
Author(s):  
Andrea Dekanić ◽  
Marko Velepič ◽  
Margita Belušić Gobić ◽  
Ita Hadžisejdić ◽  
Nives Jonjić
Keyword(s):  
Differential Diagnosis ◽  
Basal Cell ◽  
Polypoid Lesion ◽  
Older Patient ◽  
Mesenchymal Tumors ◽  
Undifferentiated Pleomorphic Sarcoma ◽  
Pleomorphic Sarcoma ◽  
Basal Cell Carcinomas ◽  
History Of ◽  
Multiple Basal Cell Carcinomas

Malignant mesenchymal tumors of oropharyngeal mucosa are rare. Those with fibroblastic and histiocytic differentiation in the skin are called atypical fibroxanthoma (AFX) and in the soft tissue undifferentiated pleomorphic sarcoma (UPS). Here we present a case of an older patient with a history of multiple basal cell carcinomas and recently with a rapidly growing polypoid lesion in the mucosa of posterior oropharyngeal wall with AFX/UPS morphology. The differential diagnosis, histological pitfalls of this poorly characterized mesenchymal lesions, and the challenges associated with treatment are discussed.

Sonidegib in a patient with multiple basal cell carcinomas and HIV infection

2021 ◽  
Author(s):  
Vincent Hoffmann ◽  
Ralf Husak ◽  
Fritz Maiwirth ◽  
Bianca Sasama ◽  
Axel Zahn ◽  
...  
Keyword(s):  
Hiv Infection ◽  
Basal Cell ◽  
Basal Cell Carcinomas ◽  
Multiple Basal Cell Carcinomas
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