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 Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Yoji Nakase ◽  
Atsuko Hamada ◽  
Naoya Kitamura ◽  
Tsuyoshi Hata ◽  
Shigeaki Toratani ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Autosomal Dominant ◽  
Tumor Formation ◽  
Gorlin Syndrome ◽  
Transmembrane Region ◽  
Developmental Abnormalities ◽  
Patched 1

AbstractNevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant manner and is characterized by a combination of developmental abnormalities and a predisposition to tumor formation. Hedgehog receptor Patched 1 (PTCH1) has been identified as the mutated gene in NBCCS. We identified the PTCH1_c.3298_3299insAAG_p.1099_1100insE mutation in the transmembrane region, which comprises a sterol transporter whose abnormal function is reportedly related to pathogenicity.

scholarly journals Tea, coffee, and caffeine and early-onset basal cell carcinoma in a case–control study

2014 ◽  
Vol 23 (4) ◽  
pp. 296-302 ◽  
Author(s):  
Leah M. Ferrucci ◽  
Brenda Cartmel ◽  
Annette M. Molinaro ◽  
David J. Leffell ◽  
Allen E. Bale ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Early Onset ◽  
Case Control Study ◽  
Case Control ◽  
Control Study

scholarly journals Body mass index, height and early-onset basal cell carcinoma in a case-control study

2016 ◽  
Vol 22 (9) ◽  
Author(s):  
Yanchang Zhang ◽  
Brenda Cartmel ◽  
Courtney C Choy ◽  
Annette M Molinaro ◽  
David J Leffell ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Body Mass ◽  
Basal Cell ◽  
Early Onset ◽  
Case Control Study ◽  
Case Control ◽  
Control Study

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 Multiple Keratocysts of the Mandible in Association with Multiple Basal Epithelioma, Jaw Cysts and Bifid Rib Syndrome: A Rare Case Report

2014 ◽  
Vol 5 (1) ◽  
pp. 39-41
Author(s):  
Shahanavaj Imam Husen Khaji ◽  
Gayathri H Kulkarni ◽  
Harish S Kulkarni ◽  
Suryakant B Metkari ◽  
Reshma Kulkarni
Keyword(s):  
Case Report ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Rare Case ◽  
Odontogenic Tumor ◽  
Keratocystic Odontogenic Tumor ◽  
Jaw Cysts ◽  
Rare Case Report ◽  
Bifid Rib

ABSTRACT Nevoid basal cell carcinoma syndrome is a syndrome with wide variety of manifestations ranging from oral lesions to skeletal deformities. It calls for due responsibility of maxillofacial surgeon to diagnose the syndrome because very often they are the first health professionals to see the patient for the treatment of keratocystic odontogenic tumor. Keratocystic odontogenic tumor (KCOT) has been the topic of numerous investigators and is known for its potentially aggressive behavior and significant rate of recurrences. Keratocystic odontogenic tumor often occurs as a solitary lesion, and in some instances multiple keratocysts may occur in association with a syndrome called Gorlin-Goltz syndrome (nevoid basal cell carcinoma, jaw cyst bifid rib basal cell nevus syndrome). Here, we present a case of multiple keratocysts in the mandible in association with skeletal, ocular and cutaneous anomalies in the given clinical scenario which has profound relevance in the clinical dental practice. How to cite this article Kulkarni GH, Khaji SI, Kulkarni HS, Metkari SB, Kulkarni R. Multiple Keratocysts of the Mandible in Association with Multiple Basal Epithelioma, Jaw Cysts and Bifid Rib Syndrome: A Rare Case Report. Int J Head Neck Surg 2014;5(1):39-41.

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.

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